Major Research Projects

Northern California Breast Cancer Family Registry

Related Web page: http://epi.grants.cancer.gov/CFR/

In 1995, the National Cancer Institute (NCI) established the Breast Cancer Family Registry, an international consortium, for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. The six collaborating family registries in the U.S. (San Francisco Bay area, New York City, Philadelphia and Utah), Ontario, Canada and Melbourne/Sydney, Australia, have enrolled over 13,000 breast cancer families as well as women without a prior history of breast cancer (population controls). Using common protocols and questionnaires, data and biospecimens have been collected for breast cancer patients and family members. Available resources include: 1) interview data on family history of breast and other cancers; hormonal, lifestyle and other factors; dietary intake based on a food frequency questionnaire; and self-reported treatment information for individuals diagnosed with breast cancer; and 2) biospecimens, such as blood or mouthwash samples, and archived tumor tissue for individuals diagnosed with breast cancer. Annual follow-ups with registry participants have taken place in order to assess the occurrence of new cancers in the family. Ten-year follow-up was initiated in 2007 and a newly funded 15-year follow-up is underway. 

The Northern California site of the Breast Cancer Family Registry has recruited and followed nearly 4,000 families and oversampled racial/ethnic minority families (accounting for 75% of families enrolled) and families with triple negative breast cancer (ER-PR-HER2-). Participating family members are kept informed through an annual newsletter (please see below). The data and biospecimen resources have been widely used in numerous collaborative studies and many new insights into the genetics of breast cancer have been gained. Specific collaborative studies are briefly described below.

Principal Investigator: Esther M. John, Ph.D.

Co-Investigators: Dee W. West, Ph.D., CPIC and Stanford University; Alice S. Whittemore, Ph.D., Stanford University, Alexander Miron, Ph.D., Dana-Farber Cancer Institute

Biorepository: Coriell Institute for Medical Research

Funding: National Cancer Institute 1995-2012 (U01 CA069417)

Newsletters for Family Registry Participants
To learn more about Family Registry for Breast Cancer, read our newsletters:

Collaborative Studies
The data and biospecimen resources from the six collaborating family registries are available to qualified researchers worldwide. Confidentiality is maintained by the assignment of a study identification number to each registry participant. No personal information, such as names or contact information, is shared with collaborating researchers. Applications to use the resources are reviewed by a Scientific Advisory Board (for information on the application process, consult http://epi.grants.cancer.gov/CFR/). To date, the Advisory Board has approved over 100 research studies on a wide range of topics. Below is a listing of studies initiated by investigators at the Northern California site and collaborative studies in which the Northern California site has participated.

BRCA1 and BRCA2 Mutations in Minority Families
Few studies have examined BRCA1 and BRCA2 mutations on breast cancer patients from racial/ethnic minority populations. The Northern California site of the Breast Cancer Family Registry has enrolled 2,200 minority families, which is a unique resource to study BRCA1 and BRCA2 mutations in specific racial/ethnic groups, including the spectrum of pathogenic mutations and unclassified variants, prevalence of mutations and variants, and penetrance. This study led by Dr. Esther M. John (National Cancer Institute, U01 CA069417) estimated the population-based prevalence of these mutations in non-Hispanic white, African-American, Hispanic, and Asian-American breast cancer patients and compared the estimates to those published for non-Hispanic white breast cancer patients enrolled in the registry, and examined the performance of prediction models for BRCA1 and BRCA2 mutation carriage in minority populations.

Genetics of Breast Cancer in Blacks
African-American and African women experience a disproportionate burden of premenopausal breast cancer for reasons that remain unknown. The identification of persons carrying breast cancer susceptibility genes is a promising approach to understanding the etiology of the disease and developing more effective early detection and prevention strategies. This on-going study led by Dr. Funmi Olopade, University of Chicago (National Cancer Institute, R01 CA089085) will compare 1,000 breast cancer patients from Nigeria and 600 African-American breast cancer cases enrolled in the Northern California site of the Breast Cancer Family Registry with regard to the prevalence and spectrum of BRCA1 and BRCA2 mutations in the two populations of African descent. The study will also assess the association with polymorphisms in the UGTIA gene, and examine UGTIA polymorphisms as potential modifiers of breast cancer risk in carriers of BRCA1 or BRCA2 mutations.

Breast Cancer Risk in BRCA Mutation Carriers
Women who carry mutations in BRCA1 or BRCA2 genes have an increased risk of developing breast cancer. Lifetime breast cancer risks have been estimated at 40-80% in such mutation carriers. Thus, some 20-60% of carriers live to advanced ages without developing breast cancer, suggesting that other genes or personal attributes may modify carriers' risks. This study led by Dr. Alice Whittemore, Stanford University (National Cancer Institute, R01 CA097359) examined whether five modifiable characteristics modify risk in carriers, including oral contraceptive use, alcohol consumption, cigarette smoking, medical radiation, and physical activity.

Cancer Risk in Relatives of Breast Cancer Patients
Two studies explored the risk of cancer in relatives of breast cancer patients who have an increased risk of breast cancer. The first study led by Dr. Jennifer Lee, Stanford University pooled data from the Northern California site of the Breast Cancer Family Registry and the Family Registry for Ovarian Cancer and examined the incidence of breast and ovarian cancer in first-degree relatives of breast and ovarian cancer patients enrolled in these two family registries, and assessed whether the risks in relatives vary by the patient's cancer site, carrier status of predisposing genetic mutations, or age at cancer diagnosis. The second study led by Dr. Gillian Dite, University of Melbourne, examined the incidence of breast and other cancers in first- and second-degree relatives of early-onset breast cancer patients (diagnosed under 35 years of age) that are enrolled in the three population-based sites of the Breast Cancer Family Registry (Northern California, Ontario Canada, and Melbourne/Sydney Australia).

Case-control Analyses of Breast Cancer Risk Factors
This study led by various investigators of the Breast Cancer Family Registry performed a series of population-based case-control analyses using data from the three population-based sites of the Breast Cancer Family Registry (Northern California, Ontario Canada, and Melbourne/Sydney Australia). Analyses focused on oral contraceptive use and early-onset breast cancer, and associations with ovarian cysts, diagnostic medical radiation, and physical activity.

The Role of the ATM Gene in Familial Breast Cancer
The role of the ATM (Ataxia telangiectasia mutated) gene in breast cancer predisposition is controversial. Studies of carriers of ATM mutations have indicated that females have, on average, a four- to seven-fold increased risk of breast cancer, but mutation analysis of the ATM gene in unselected breast cancer cases has failed to find a convincingly increased frequency as compared with controls. This on-going study led by Dr. Georgia Chenevix Trench, Queensland Medical Institute for Research, Australia (National Cancer Institute, R01 CA100352) pooled resources from the Breast Cancer Family Registry and KConFab, an Australian consortium, to estimate the penetrance and frequency of breast cancer-causing ATM mutations in almost 3,000 putative hereditary breast cancer families. The findings will have numerous clinical implications, including whether women in high-risk families should be routinely or selectively screened for ATM, as well as BRCA1 and BRCA2 mutations.

IGF Signaling Pathway and Breast Cancer Risk
The identification of genetic risk factors in pathways that are central to the regulation of cell proliferation is one of the avenues leading to a better understanding of the development and progression of cancer. As uncontrolled cell growth is a hallmark of cancer, genes involved in insulin-like growth factor (IGF) signaling may play an important role in breast cancer etiology. This on-going study led by Dr. Susan Neuhausen, City of Hope (National Cancer Institute, R01 CA116494) will pool resources from the Breast Cancer Family Registry and kConFab, an Australian consortium, and perform a comprehensive analysis of genes involved in IGF signaling through an approach that combines multiple variants in a single gene to form haplotypes and examines interactions of multiple genes in this pathway. The findings from this study will provide information to more accurately assess breast cancer risk in women and to target women who could benefit from prevention strategies. Currently, chemotherapies are being directed to the IGF pathway and the results of this study could provide further targets, as well as assist in identifying the group of women who could particularly benefit from these new drugs.

Genetics Studies of Mammographic Density
The density of breast tissue, which reflects differences in breast tissue composition, is one of the strongest known risk factors for breast cancer. Women with high vs. low mammographic density have a three- to four-fold increased risk of developing breast cancer. Studies in twins have estimated that the heritability of mammographic density is high (63%). This on-going study led by Dr. Johanna Rommens, Hospital for Sick Children, Toronto, Canada (National Cancer Institute, R01 CA102659) attempts to identify the major genetic determinants of radiographically dense breast tissue, with the long-term goal of identifying susceptibility genes for breast cancer. Mammograms are being collected for sister pairs enrolled in the Breast Cancer Family Registry, including the Northern California site, for whom blood samples and interview data are already available. The mammogram will be digitized in order to determine mammographic density. In addition, blood samples are being collected for dizygotic twins for whom mammograms and epidemiologic data are available from previous studies conducted in Ontario and Australia. Based on resources for about 4,000 women, genome-wide linkage studies will be carried out to identify major loci for mammographic density, followed with refined mapping using both linkage and association analyses. Finally, the gene variants associated with mammographic density will be tested for associations with breast cancer. The long term objectives are to gain insight into breast biology and to assist in the prediction and diagnosis of breast cancer, and, ultimately, to provide for prevention strategies and more effective treatments.

Prognosis in BRCA1 Associated Breast Cancer
Hereditary breast cancer occurs at an earlier age, is more likely to be bilateral, and is more likely to be associated with other cancers than "sporadic" breast cancer. There is growing evidence that BRCA1 associated cancers have different pathologic characteristics and worse prognoses than "sporadic" breast cancers. This study led by Dr. Pamela Goodwin, Cancer Care Ontario, Toronto Canada (National Cancer Institute, R01CA102740) investigated the prognoses and pathologic characteristics of breast cancers occurring in women with germline mutations in BRCA1, compared to women with "sporadic" breast cancers. Distant recurrence and death were assessed in relation to traditional prognostic factors, detailed clinical and treatment-related variables collected by medical record review, and specific molecular markers.

Predictors of Mortality after Breast Cancer Diagnosis
This study led by investigators of the Breast Cancer Family Registry examined factors associated with survival of breast cancer cases from the three population-based family registry sites (Northern California, Ontario Canada, and Melbourne/Sydney Australia). Factors examined include family history of breast cancer, reproductive characteristics, physical activity and body size.

Admixture Mapping for Breast Cancer in Latinas
This on-going study led by Dr. Elad Ziv at the University California at San Francisco is conducting a genome-wide association study of breast cancer in Latina women (National Cancer Institute, R01 CA120120). The study uses resources from the Northern California Breast Cancer Family Registry and the San Francisco Bay Area Breast Cancer Study. The aim of the study is to identify novel susceptibility genes for breast cancer in Latina women.

A Genome-wide Breast Cancer Scan in African Americans
This on-going multi-center study led by Dr. Chris Haiman at the University of Southern California and funded by the Department of Defense assembled several resources from several breast cancer studies, including the Northern California Breast Cancer Family Registry, in order to perform a genome-wide association study with the aim of identifying novel susceptibility genes for breast cancer in African American women.

Common and Rare Sequence Variants in Breast Cancer Risk
Combining data from segregation analyses and mutation screening studies, the established breast cancer susceptibility genes are responsible for an estimated 20%-25% of the genetic component of this disease. The genes and/or sequence variants responsible for the remaining genetic component of breast cancer risk have yet to be identified. This on-going study led by Dr. Sean Tavtigian, University of Utah (National Cancer Institute, R01 CA121245), was designed to make a direct comparison between the common disease/common variant and common disease/rare variant models of genetic susceptibility.

CIMBA (Consortium of Investigators of Modifiers of BRCA1/2) Consortium
BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among carriers. This international consortium assembled about 10,000 BRCA1 and 5,000 BRCA2 mutation carriers from over 30 studies, including the Northern California Breast Cancer Family Registry, in order to identify genetic modifiers of breast cancer risk in mutation carriers. The identification of genetic modifiers will lead to an improved understanding of breast cancer and may prove useful for the determination of individualized risk of cancer amongst carriers.

BCAC (Breast Cancer Association Studies Consortium) Consortium
BCAC is an international multidisciplinary consortium formed in April 2005 that has assembled over 58 studies, including the Northern California Breast Cancer Family Registry, in order to perform pooled analyses of candidate polymorphisms and breast cancer risk in a very large dataset of over 30,000 cases and 30,000 controls of largely European descent.

Families with Triple Negative Breast Cancer
In recent years advances in genetic expression profiling have led to the identification of breast cancer subtypes (basal-like, luminal A, luminal B, HER2 overexpressing), and evidence has emerged that these subtypes differ in etiology, response to treatment, and survival. The basal-like subtype is associated with particularly poor outcome. The triple negative subtype (ER-PR-HER2/neu-) is often used as a surrogate marker for the basal-like subtype. This on-going study led by Dr. Esther John, CPIC (funded by an ARRA supplement) will expand the recruitment of triple negative breast cancer families in the Northern California Breast Cancer Family Registry, increasing the number of triple negative families to over 600.

The Influence of the Built Environment on Outcomes after Breast Cancer
The 5-year relative survival after breast cancer diagnosis is now nearing 90%, resulting in an estimated 2.3 million US breast cancer survivors in 2005. Yet, because breast cancer is the 2nd leading cause of cancer death, and survivors have increased risks of recurrence, second cancers, adverse outcomes, and premature death, it is critical to identify modifiable factors that can reduce the risk for these conditions and improve survival, particularly in racial/ethnic minority populations who have less favorable outcomes. This on-going study led by Dr. Theresa Keegan, CPIC (National Cancer Institute, R21 CA133255) will examine the combined effects of physical activity, body size, and a comprehensive set of measures of the built environment on overall survival, breast cancer-specific survival and second primary cancer after breast cancer diagnosis. The analysis will be based on over 4,000 multiethnic (African-American, Hispanic, Asian-American and non-Hispanic white) breast cancer cases diagnosed since 1995 who participated in the Northern California Breast Cancer Family Registry and the San Francisco Bay Area Breast Cancer Study.

Impact of Contextual Factors on Disparities in Breast Cancer Risk and Survival
The risk of breast cancer is lower in women of lower socioeconomic (SES) status, while survival after breast cancer in these groups is poorer for certain racial/ethnic groups, in particular African-Americans. However, the reasons behind these associations are still not well understood, likely because prior research lacked the necessary multilevel approach for joint examination of individual and neighborhood (contextual) characteristics. This on-going study led by Dr. Scarlett Gomez, CPIC (National Cancer Institute, R01 CA 140058) will enhance individual-level socioeconomic, immigration/acculturation, and behavioral data on breast cancer cases and controls from two studies (the Northern California Breast Cancer Family Registry and the San Francisco Bay Area Breast Cancer Study) by linking them to contextual geospatial data on SES, immigration/acculturation, and the social and built environment. These individual and contextual variables will be used to examine their independent and joint effects on cancer risk and survival, and the extent to which these effects are due to behavioral, social, and established breast cancer risk or prognostic factors.

Publications:
The following list includes publications co-authored by investigators from the Northern California site of the Breast Cancer Family Registry (John, Whittemore, West), and collaborators from the Cancer Prevention Institute of California and Stanford University. For a complete list of all publications using resources from the Breast Cancer Family Registry, please visit the website: http://epi.grants.cancer.gov/CFR/about_breast_pubs.html

Description of the Breast Cancer Family Registry

Neuhausen SL, Ozcelik H, Southey MC, John EM, Godwin AK, Chung W, Iriondo-Perez J, Miron A, Santella RM, Whittemore AS, Andrulis IL, Buys SS, Daly MB, Hopper JL, Seminara D, Senie RT, Terry MB, for the Breast Cancer Family Registry. BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research. Breast Cancer Res & Treat. 2009;116(2):379-86.

John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N, Buys SS, Daly MB, O'Malley FP, Santella RM, Southey MC, Venne VL, Venter DJ, West DW, Whittemore AS, Seminara S, for the Breast Cancer Family Registry. The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Research. 2004; 6(4):R375-R389.

Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, van Orsouw NJ, Venter DJ, Vijg J, Whittemore AS, Cooperative Family Registry for Breast Cancer Studies. Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations. Hum Mutat .2002;20(1):65-73.

Daly MB, Offit K, Li F, Glendon G, Yaker A, West DW, Koenig B, McCredie M, Venne V, Nayfield S, Seminara D. Participation in the Cooperative Family Registry for Breast Cancer studies: issues of informed consent. J Natl Cancer Inst. 2000; 92(6):452-456.

Prevalence of BRCA1 and BRCA2 Mutations

John EM, Miron A, Gong G, Phipps AI, Felberg I, Li FP, West DW, Whittemore AS. Prevalence of pathogenic BRCA1 mutation carriers in five US racial/ethnic groups. JAMA. 2007;298(24):2869-76.

Whittemore AS, Gong G, John EM, McGuire V, Li F, Ostrow K, DiCioccio R, Felberg A, West D. Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic whites. Cancer Epidemiol Biomarkers Prev. 2004; 13(12):2078-83.

Breast Cancer Risk Modifiers in BRCA Mutation Carriers

Breast Cancer Family Registry; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (Australasia); Ontario Cancer Genetics Network (Canada). Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years. Breast Cancer Res Treat. 2008;109(1):67-75.

Haile RW, Thomas DC, McGuire B, Felberg A, John EM, Milne RL, Hopper JL, Jenkins MA, Levine AJ, Daly MM, Buys SS, Senie RM, Andrulis IL, Knight JA, Godwin AK, Southey M, McCredie MRE, Giles GG, Andrews L, Tucker K, Miron A, Apicella C, Tesoriero A, Pike MC, kConFab Investigators, Whittemore AS. BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. Cancer Epidemiol Biomarkers Prev. 2006 Oct;15(10):1863-70. Epub 2006 Oct. 4.

McGuire V, John EM, Felberg A, Haile RW, Boyd NF, Thomas DC, Jenkins MA, Milne RL, Daly MB, Ward J, Terry MB, Andrulis IL, Knight JA, Godwin AK, Giles GG, Southey M, West DW, Hopper JL, Whittemore AS, kConFab Investigators. No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years. Cancer Epidemiol Biomarkers Prev. 2006 Aug;15(8):1565-7.

Whittemore AS, Balise RR, Pharoah PD, Dicioccio RA, Oakley-Girvan I, Ramus SJ, Daly M, Usinowicz MB, Garlinghouse-Jones K, Ponder BA, Buys S, Senie RT, Andrulis I, John E, Hopper JL, Piver MS. Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. Br J Cancer. 2004;91(11):1911-5.

CIMBA (Consortium of Investigators of Modifiers of BRCA1/2) Consortium

Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles DM, Nevanlinna H, Ramus SJ, Spurdle M, Robson ME, Sherman ME, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Golgar DE, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Cilius Nielsen F, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB, Peock S, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C, Weaver J, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schoenbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Canadas C, Heikkinen T, Heikkilä P, Aittomäki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox SB, Rebbeck TR, Rubinstein WS, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr RA, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko AP, Imyanitov EN, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse TA, Caligo MA, Aretini P, Rantala J, von Wachenfeld A, Henriksson K, Steele L, Neuhausen SL, Nussbaum B, Beattie MS, Odunsi KO, Sucheston LE, Gayther SA, Nathanson KL, Gross J, Walsh CS, Karlan BY, Chenevix-Trench G, Easton DF, Antoniou AC. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012 Jan;21(1):134-147. Epub 2011 Dec 5.

Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L, Healey S, Sinilnikova OM, Janavicius R, Hansen TV, Nielsen FC, Ejlertsen B, Osorio A, Munoz-Repeto I, Duran M, Godino J, Pertesi M, Benitez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Bonanni B, Viel A, Pasini B, Papi L, Ottini L, Savarese A, Bernard L, Radice P, Hamann U, Verheus M, Meijers-Heijboer HE, Wijnen J, Gomez Garcia EB, Nelen MR, Kets CM, Seynaeve C, Tilanus-Linthorst MM, van der Luijt RB, van Os T, Rookus M, Frost D, Jones JL, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Cook J, Donaldson A, Dorkins H, Gregory H, Eason J, Houghton C, Barwell J, Side LE, McCann E, Murray A, Peock S, Godwin A, Schmutzler RK, Rhiem K, Engel C, Meindl A, Ruehl I, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Kast K, Preisler-Adams S, Varon-Mateeva R, Schoenbuchner I, Fiebig B, Heinritz W, Schafer D, Gevensleben H, Caux-Moncoutier V, Fassy-Colcombet M, Cornelis F, Mazoyer S, Leone M, Boutry-Kryza N, Hardouin A, Berthet P, Muller D, Fricker JP, Mortemousque I, Pujol P, Coupier I, Lebrun M, Kientz C, Longy M, Sevenet N, Stoppa-Lyonnet D, Isaacs C, Caldes T, de Al Hoya M, Heikkinen T, Aittomaki K, Blanco I, Lazaro C, Barkardottir RB, Soucy P, Dumont M, Simard J, Montagna M, Tognazzo S, D''Andrea E, Fox S, Yan M, Rebbeck TR, Olopade OI, Weitzel JN, Lynch HT, Ganz PA, Tomlinson GE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet M, Bhatia J, Kauff N, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Mai PL, Greene MH, Imyanitov E, O''Malley FP, Ozcelik H, Glendon G, Toland AE, Gerdes AM, Thomassen M, Kruse TA, Birk Jensen U, Skytte AB, Caligo MA, Soller M, Henriksson K, von Wachenfeldt A, Arver B, Stenmark-Askmalm M, Karlsson P, Ding YC, Neuhausen SL, Beattie M, Pharoah PD, Moysich KB, Nathanson KL, Karlan BY, Gross J, John EM, Daly MB, Buys SM, Southey MC, Hopper JL, Terry MB, Chung W, Miron AF, Goldgar D, Chenevix-Trench G, Easton DF, Andrulis IL, Antoniou AC, Family Registry BC, Embrace, Collaborators GS, Hebon, Network OC, Swe-Brca, Cimba. Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2011 Nov 2;13(6):R110. 

Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL; Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Caligo MA, Friedman E, Laitman Y, Kaufman B, Paluch SS, Borg Å, Karlsson P, Askmalm MS, Bustinza GB; SWE-BRCA Collaborators, Nathanson KL, Domchek SM, Rebbeck TR, Benítez J, Hamann U, Rookus MA, van den Ouweland AM, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gille HJ; HEBON; EMBRACE, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Paterson J, Eason J, Godwin AK, Remon MA, Moncoutier V, Gauthier-Villars M, Lasset C, Giraud S, Hardouin A, Berthet P, Sobol H, Eisinger F, Bressac de Paillerets B, Caron O, Delnatte C; GEMO Study Collaborators, Goldgar D, Miron A, Ozcelik H, Buys S, Southey MC, Terry MB, Breast Cancer Family Registry, Singer CF, Dressler AC, Tea MK, Hansen TV, Johannsson O, Piedmonte M, Rodriguez GC, Basil JB, Blank S, Toland AE, Montagna M, Isaacs C, Blanco I, Gayther SA, Moysich KB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Sutter C, Gadzicki D, Fiebig B, Caldes T, Laframboise R, Nevanlinna H, Chen X, Beesley J, Spurdle AB, Neuhausen SL, Ding YC, Couch FJ, Wang X, Peterlongo P, Manoukian S, Bernard L, Radice P, Easton DF, Chenevix-Trench G, Antoniou AC, Stoppa-Lyonnet D, Mazoyer S, Sinilnikova OM; Consortium of Investigators of Modifiers of BRCA1/2. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet. 2011 Dec 1;20(23):4732-47.

Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M, Rubinstein WS; HEBON, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P, Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Barkardottir RB, Montagna M, D'Andrea E; kConFab, Devilee P, Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics Network, Toland AE, Caligo MA; SWE-BRCA, Beattie MS, Chan S; UKFOCR, Domchek SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M, Weitzel JN, Garber J, Hamann U; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK, Wappenschmidt B, Laitman Y, Meindl A, Deissler H, Varon-Mateeva R, Preisler-Adams S, Kast K, Venat-Bouvet L, Stoppa-Lyonnet D, Chenevix-Trench G, Easton DF, Klein RJ, Daly MJ, Friedman E, Dean M, Clark AG, Altshuler DM, Antoniou AC, Couch FJ, Offit K, Gold B. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet. 2011 Nov;130(5):685-99.

Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B; SWE-BRCA, Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Cajal TR, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB; HEBON, Peock S, Cook M, Frost D, Platte R, Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z; EMBRACE, Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Coupier I, Frénay M; GEMO Study Collaborators, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Tea MK, Pfeiler G, Dressler AC, Hansen TV, Jønson L, Ejlertsen B, Barkardottir RB, Kirchhoff T, Offit K, Piedmonte M, Rodriguez G, Small L, Boggess J, Blank S, Basil J, Azodi M, Toland AE, Montagna M, Tognazzo S, Agata S, Imyanitov E, Janavicius R, Lazaro C, Blanco I, Pharoah PD, Sucheston L, Karlan BY, Walsh CS, Olah E, Bozsik A, Teo SH, Seldon JL, Beattie MS, van Rensburg EJ, Sluiter MD, Diez O, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ruehl I, Varon-Mateeva R, Kast K, Deissler H, Niederacher D, Arnold N, Gadzicki D, Schönbuchner I, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Dumont M, Chiquette J, Tischkowitz M, Chen X, Beesley J, Spurdle AB; kConFab investigators, Neuhausen SL, Ding YC, Fredericksen Z, Wang X, Pankratz VS, Couch F, Simard J, Easton DF, Chenevix-Trench G; on behalf of CIMBA. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genetics. 2011;20(16):3304-3321.

Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubinski J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C, Debniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE; HEBON; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S; GEMO Study Collaborators, Miron A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D; BCFR, Hansen TV, Jønson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I, Lázaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R, Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Simard J, Soucy P; kConFab Investigators, Spurdle AB, Holland H, Chenevix-Trench G, Easton DF, Antoniou AC; on behalf of Consortium of Investigators of Modifiers of BRCA1/2. Genetic variation at 9q22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2011;103(2):105-116.

Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL; Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B; SWE-BRCA, Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M; HEBON, Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S; EMBRACE, Godwin AK, Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux D, Hardouin A, Berthet P, Faivre L; GEMO, Loustalot C, Noguchi T, Sobol H, Rouleau E, Nogues C, Frénay M, Vénat-Bouvet L; GEMO, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TV, Jønson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus SJ, Sucheston L, Karlan BY, Gross J, Schmutzler R, Wappenschmidt B, Engel C, Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I, Caldes T, de la Hoya M, Aittomäki K, Nevanlinna H, Simard J, Spurdle AB, Holland H, Chen X; kConFab, Platte R, Chenevix-Trench G, Easton DF; CIMBA. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010 Dec 1;70(23):9742-54.

Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB, Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Górski B, Cybulski C, Spurdle AB, Holland H, Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C, Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A, Radice P, Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene MH, Mai PL, Loud JT, Guidugli L, Lindor NM, Hansen TV, Nielsen FC, Blanco I, Lazaro C, Garber J, Ramus SJ, Gayther SA, Phelan C, Narod S, Szabo CI, Benitez J, Osorio A, Nevanlinna H, Heikkinen T, Caligo MA, Beattie MS, Hamann U, Godwin AK, Montagna M, Casella C, Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O, Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG, Montgomery GW, Chang-Claude J, Flesch-Janys D, Brauch H, Severi G, Baglietto L, Cox A, Cross SS, Miron P, Gerty SM, Tapper W, Yannoukakos D, Fountzilas G, Fasching PA, Beckmann MW, Dos Santos Silva I, Peto J, Lambrechts D, Paridaens R, Rüdiger T, Försti A, Winqvist R, Pylkäs K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C, Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS, Hakonarson H, Chenevix-Trench G, Easton DF, Couch FJ. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet. 2010;42(10):885-92.

Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S; KConFab, Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N; OCGN, Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y, Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernström H, Askmalm MS, Arver B, Malmer B; SWE-BRCA, Domchek SM, Nathanson KL, Brunet J, Ramón Y Cajal T, Yannoukakos D, Hamann U; HEBON, Hogervorst FB, Verhoef S, Gómez García EB, Wijnen JT, van den Ouweland A; EMBRACE, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S, Morrison PJ, Douglas F, Godwin AK; GEMO, Sinilnikova OM, Barjhoux L, Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Révillion F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL, Terry MB, Miron A, Yassin Y, Goldgar D; Breast Cancer Family Registry, Singer CF, Gschwantler-Kaulich D, Pfeiler G, Spiess AC, Hansen TV, Johannsson OT, Kirchhoff T, Offit K, Kosarin K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deissler H, Fiebig B, Varon-Mateeva R, Schaefer D, Froster UG, Caldes T, de la Hoya M, McGuffog L, Antoniou AC, Nevanlinna H, Radice P, Benítez J; CMBA. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modiferis of BRCA1/BRCA2 (CIMBA). Br J Cancer. 2009;101(12):2048-54.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Jan Lubinski J, on behalf of CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer⁵: kConFab, UCI, MAYO, MBCSG, ModSqad, NCI, NICCC, OCGN, OUH, PBCS, SMC, SWE-BRCA, UPENN, IHCC, CNIO, DKFZ, HEBON, EMBRACE, FCCC, GEMO, BCFR, MUV, CBCS, MSKCC, GOG, OSU CCG, UTBCS, GC-HBOC, HCSC, HEBCS, INHERIT BRCAs. The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: Results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2010;121(3):639-49.

Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomaki K, Simard J, Spurdle AB, KConFab, Couch FJ, Pereira LH, Greene MH, Andrulis IL, Ontario Cancer Genetics Network, Pasche B, Kaklamani V, Breast Cancer Family Registry, Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Dondaldson A, Male AM, Gardiner CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I, EMBRACE, Peyrat JP, Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM, Stoppa-Lyonnet D, GEMO, Schmutzler RK, Versmold B, Engel C, Meindle A, Kast K, Schaefer D, Froster UG, Chenevix-Trench G, Easton DF. No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Res Treat. 2009;115(1)185-92.

Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN, Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON, Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE, Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO, Goldgar D, Miron A, John EM, Buys SS, Daly MB, Hopper JL, Terry MB, Yassin Y; Breast Cancer Family Registry, Singer C, Gschwantler-Kaulich D, Staudigl C, Hansen TO, Barkardottir RB, Kirchhoff T, Pal P, Kosarin K, Offit K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deissler H, Fiebig B, Suttner C, Schönbuchner I, Gadzicki D, Caldes T, de la Hoya M, Pooley KA, Easton DF, Chenevix-Trench G; CIMBA. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2009;18(22):4442-56.

Spurdle AB, Antoniou AC, Duffy D, Kelemen L, Holland H, Peock S, Cook MR, Smith PL, Greene MH, Simard J, Plourde M, Southey M, Godwin A, Beck J, Miron A, Daly M, Santella R, Hopper J, John EM, Andrulis I, Durocher F, Struewing, JP, Easton DF, Chenevix-Trench G, Australian Breast Cancer Family Study, Australian Jewish Breast Cancer Study, Breast Cancer Family Registry, Interdisciplinary Health Research International Team on Breast Cancer Susceptibility, The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, and Epidemiological Study of Familial Breast Cancer Study Collaborators. The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):76-9.

Pathology of BRCA Associated Breast Cancer

Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, Giles G, Godwin AK, Hisbshoosh H, Hopper JL, John EM, Layfield L, Longacre T, Miron A, Senie R, Southey MC, West DW, Whittemore AS, Wu H, Andrulis IL, O'Malley FP. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol. 2007;31(1):121-8.

Prognosis in BRCA1 Associated Breast Cancer

Goodwin PJ, Phillips KA, West DW, Ennis M, Hopper JL, John EM, O’Malley FP, Milne RL, Andrulis IL, Friedlander ML, Southey MS, Apicella C, Giles G, Longacre TA. Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: An international prospective Breast Cancer Family Registry population-based cohort study. J Clin Oncol. 2012 Jan 1;30(1):19-26.

Breast Cancer Linkage Studies

Thompson D, Szabo CI, Mangion J, Oldenburg RA, Odefrey F, Seal S, Barfoot R, Kroeze-Jansema K, Teare D, Rahman N, Renard H, Mann G, Hopper JL, Buys SS, Andrulis IL, Senie RT, Daly MB, West D, Ostrander EA, Offit K, Peretz T, Osorio A, Benitez J, Nathanson KL, Sinilnikova OM, Olah E, Bignon YJ, Ruiz P, Badzioch MD, Vasen HF, Futreal AP, Phelan CM, Narod SA, Lynch HT, Ponder BA, Eeles RA, Meijers-Heijboer H, Stoppa-Lyonnet D, Couch FJ, Eccles DM, Evans DG, Chang-Claude J, Lenoir G, Weber BL, Devilee P, Easton DF, Goldgar DE, Stratton MR; KConFab Consortium. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci USA. 2002;99(2):827-31.

Cancer Risk in Relatives of Breast Cancer Patients

Kurian AW, Gong GD, John EM, Johnston DA, Felberg A, West DW, Miron A, Andrulis IL, Hopper JL, Knight J, Ozcelik H, Dite GS, Apicella C, Southey MC, Whittemore AS. Breast Cancer Risk for Non-Carriers of Family-Specific BRCA1 and BRCA2 Mutations: Findings from the Breast Cancer Family Registry. J Clinic Oncol. 2011 Dec 1;29(34):4505-9.

Dite GS, Whittemore AS, Knight JA, John EM, Milne RL, Andrulis IL, Southey MC, McCredie MRE, Giles GG, Miron A, Phipps AI, West DW, Hopper JL. Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations. Br J Cancer. 2010;103(7):1103-8.

Lee JS, John EM, McGuire V, Felberg A, Ostrow KL, DiCioccio RA, Li FP, Miron A, West DW, Whittemore AS. Breast and ovarian cancer in relatives of cancer patients, with and without BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2):359-63.

Risk Prediction Models

Kurian AW, Gong GD, John EM, Miron A, Felberg A, Phipps AI, West DW, Whittemore AS. Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: Findings from the Northern California Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev. 2009;18(4):1084-91.

Apicella C, Dowty JG, Dite GS, Jenkins MA, Senie R, Daly MB, Andrulis IL, John EM, Buys SS, Li FP, Glendon G, Chung W, Ozcelik H, Miron A, Kotar K, Southey MC, Foulkes W, Hopper JL. Validation study of the LAMBDA model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women. Clin Genet. 2007;72:87-97.

Case-control Analyses of Breast Cancer Risk Factors

John EM, Phipps AI, Knight JA, Milne RL, Dite GS, Hopper JL, Andrulis IL, Southey M, Giles GG, West DW, Whittemore AS. Medical radiation exposure and breast cancer risk: Findings from the Breast Cancer Family Registry. Int J Cancer. 2007;121:386-94.

Terry MB, Knight JA, Zablotska L, Wang Q, John EM, Andrulis IL, Senie RT, Daly M, Ozcelik H, Briollais L, Santella RM. Alcohol metabolism, alcohol intake, and breast cancer risk: a sister-set analysis using the Breast Cancer Family Registry. Breast Cancer Res Treat. 2007;106(2):281-8.

Knight JA, John EM, Milne RL, Dite GS, Balbuena R, Shi EJ, Giles GG, Ziogas A, Andrulis IL, Whittemore AS, Hopper JL; Breast Cancer Family Registry. An inverse association between ovarian cysts and breast cancer in the Breast Cancer Family Registry. Int J Cancer. 2006 Jan 1;118(1):197-202.

Milne RL, Knight JA, John EM, Dite GS, Balbuena R, Ziogas A, Andrulis IL, West DW, Li FP, Southey MC, Giles GG, McCredie MR, Hopper JL, Whittemore AS. Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev. 2005 Feb;14(2):350-6.

Genetics of Breast Cancer in Blacks

Hou N, Zheng Y, Gamazon ER, Ogundiran TO, Adebamowo C, Nathanson KL, Domchek SM, Rebbeck TR, Simon MS, John EM, Hennis A, Nemesure B, Wu SY, Leske CM, Ambs S, Niu Q, Zhang J, Pierce BL, Cox NJ, Olopade FI, Huo D. Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry. Cancer Epidemiol Biomarkers Prev. 2012 Jan 11. [Epub ahead of print]

Zheng Y, Ogundiran TO, Adbamowo C. Nathanson KL, Domcneck SM, Rebbeck TR, John EM, Hennis A, Nemesure B, Wu S-Y, Ambs S, Niu Q, Zhang J, Cox NJ, Olopade OI, Huo D. Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry. Breast Cancer Res Treatm. 2011 Nov 29 [Epub ahead of print]

Chen F, Chen GK, Millikan RC, John EM, Ambrosone CB, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Deming SL, Bandera EV, Nyante S, Palmer JR, Rebbeck TR, Ingles SA, Press MF, Rodriguez-Gil JL, Chanock SJ, Le Marchand L, Kolonel LN, Henderson BE, Stram DO, Haiman CA. Fine-Mapping of Breast Cancer Susceptibility Loci Characterizes Genetic Risk in African Americans. Human Mol Genetics. 2011; Nov 15;20(22):4491-503.

Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, Bernstein L, Blot WJ, Bock CH, Boerwinkle E, Cai Q, Caporaso N, Casey G, Adrienne Cupples L, Deming SL, Ryan Diver W, Divers J, Fornage M, Gillanders EM, Glessner J, Harris CC, Hu JJ, Ingles SA, Isaacs W, John EM, Linda Kao WH, Keating B, Kittles RA, Kolonel LN, Larkin E, Le Marchand L, McNeill LH, Millikan RC, Murphy, Musani S, Neslund-Dudas C, Nyante S, Papanicolaou GJ, Press MF, Psaty BM, Reiner AP, Rich SS, Rodriguez-Gil JL, Rotter JI, Rybicki BA, Schwartz AG, Signorello LB, Spitz M, Strom SS, Thun MJ, Tucker MA, Wang Z, Wiencke JK, Witte JS, Wrensch M, Wu X, Yamamura Y, Zanetti KA, Zheng W, Ziegler RG, Zhu X, Redline S, Hirschhorn JN, Henderson BE, Taylor Jr HA, Price AL, Hakonarson H, Chanock SJ, Haiman CA, Wilson JG, Reich D, Myers SR. The landscape of recombination in African Americans. Nature. 2011;476(7359):170-5.

Pasaniuc B, Zaitlen N, Lettre G, Chen GK, Tandon A, Kao WH, Ruczinski I, Fornage M, Siscovick DS, Zhu X, Larkin E, Lange LA, Cupples LA, Yang Q, Akylbekova EL, Musani SK, Divers J, Mychaleckyj J, Li M, Papanicolaou GJ, Millikan RC, Ambrosone CB, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante SJ, Bandera EV, Ingles SA, Press MF, Chanock SJ, Deming SL, Rodriguez-Gil JL, Palmer CD, Buxbaum S, Ekunwe L, Hirschhorn JN, Henderson BE, Myers S, Haiman CA, Reich D, Patterson N, Wilson JG, Price AL. Enhanced Statistical Tests for GWAS in Admixed Populations: Assessment using African Americans from CARe and a Breast Cancer Consortium. PLoS Genet. 2011;7(4):e1001371.

Chen GK, Millikan RC, John EM, Ambrosone CB, Bernstein L, Zheng W, Hu JJ, Chanock SJ, Ziegler RG, Bandera EV, Henderson BE, Haiman CA, Stram DO. The potential for enhancing the power of genetic association studies in African Americans through the reuse of existing genotype data. PLoS Genet. 2010;6(9).

Ding YC, Steele L, Kelley K, Chu LH, John EM, Tomlinson GE, Neuhausen SL. Germline mutations in PALB2 in African-American breast cancer cases. Breast Cancer Res Treatm. 2011 Feb;126(1):227-30.

Fejerman L, Haiman CA, Reich D, Tandon A, Deo RC, John EM, Ingles SA, Ambrosone CB, Howard Bovbjerg D, Jandorf LH, Davis W, Ciupak G, Whittemore AS, Press MF, Ursin G, Bernstein L, Huntsman S, Henderson BE, Ziv E, Freedman ML. An admixture scan in 1,484 African American women with breast cancer. Cancer Epidemiol Biomarkers Prev.2009;18(11):3110-7.

Hong AL, Huo D, Kim HJ, Chen YS, Niu Q, Cummings SA, John EM, West DW, Whittemore AS, Das S, Olopade OI. UDP-Glucuronosyltransferase 1A1 gene polymorphisms and total bilirubin levels in an ethnically diverse cohort of women. Drug Metab Disposition. 2007;35:1254-61.

Genetics of Other Breast Cancer Related Traits in African Americans

N'diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, Bernstein L, Blot WJ, Boerwinkle E, Britton A, Casey G, Chanock SJ, Demerath E, Deming SL, Diver WR, Fox C, Harris TB, Hernandez DG, Hu JJ, Ingles SA, John EM, Johnson C, Keating B, Kittles RA, Kolonel LN, Kritchevsky SB, Le Marchand L, Lohman K, Liu J, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, North KE, Nyante S, Ogunniyi A, Ostrander EA, Papanicolaou G, Patel S, Pettaway CA, Press MF, Redline S, Rodriguez-Gil JL, Rotimi C, Rybicki BA, Salako B, Schreiner PJ, Signorello LB, Singleton AB, Stanford JL, Stram AH, Stram DO, Strom SS, Suktitipat B, Thun MJ, Witte JS, Yanek LR, Ziegler RG, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Evans MK, Liu Y, Becker DM, Cooper RS, Pastinen T, Henderson BE, Hirschhorn JN, Lettre G, Haiman CA. Identification, replication, and fine-mapping of loci associated with adult height in individuals of African ancestry. PLoS Genet. 2011;7(10):e1002298. Correction: PLoS Genet. 2011 Nov;7(11).

Genetics of Breast Cancer in Latinas

Fejerman L, Chen GK, Eng C, Huntsman S, Hu D, Williams A, Pasaniuc B, John EM, Via M, Gignoux C, Ingles S , Monroe KR, Kolonel LN, Torres Mejia G, Perez-Stable EJ, Gonzalez Burchard E, Henderson BE, Haiman CA, Ziv E. Admixture mapping identifies a locus on 6q25 associated with breast cancer in US Latinas. Hum Molec Genetics. 2012 Jan 6. [Epub ahead of print]

Fejerman L, Romieu I, John EM, Lazcano-Ponce E, Huntsman S, Beckman KB, Perez-Stable EJ, Gonzalez Burchard E, Ziv E, Torres-Mejia G. European ancestry is positively associated with breast cancer risk in Mexican women. Cancer Epidemiol Biomarkers Prev. 2010;19(4):1074-82.

Fejerman L, John EM, Huntsman S, Beckman K, Choudhry S, Perez-Stable E, González Burchard E, Ziv E. Genetic ancestry and risk of breast cancer among US Latinas. Cancer Res. 2008;68(23)9723-8.

Early Onset Breast Cancer

Smith LD, Tesoriero AA, Wong ME, Ramus SJ, O’Malley FP, Mulligan AM, Terry MB, Senie RT, Santella RM, John EM, Andrulis IL, Ozcelik H, Daly MB, Godwin AK, Buys SS, Fox S, Goldgar DE, Giles GG, Hopper JL, Southey MC. Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: A report from The Breast Cancer Family Registry. Breast Cancer Res. 2011;13(1):R14.

Kibriya MG, Jasmine F, Argos M, Andrulis IL, John EM, Chang-Claude J, Ahsan H. A pilot genome-wide association study of early-onset breast cancer. Breast Cancer Res & Treat. 2009;114(3):463-77.

Estrogen-receptor Negative Breast Cancer

Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Gerty SM, Giles GG, Godwin AK, Goodfellow P, Graham N, Greco D, Hamann U, Hankinson SE, Hartmann A, Hein R, Heinz J, Holbrook A, Hoover RN, Hu JJ, Hunter DJ, Ingles SA, Irwanto A, Ivanovich J, John EM, Johnson N, Jukkola-Vuorinen A, Kaaks R, Ko YD, Kolonel LN, Konstantopoulou I, Kosma VM, Kulkarni S, Lambrechts D, Lee AM, Marchand LL, Lesnick T, Liu J, Lindstrom S, Mannermaa A, Margolin S, Martin NG, Miron P, Montgomery GW, Nevanlinna H, Nickels S, Nyante S, Olswold C, Palmer J, Pathak H, Pectasides D, Perou CM, Peto J, Pharoah PD, Pooler LC, Press MF, Pylkäs K, Rebbeck TR, Rodriguez-Gil JL, Rosenberg L, Ross E, Rüdiger T, Silva ID, Sawyer E, Schmidt MK, Schulz-Wendtland R, Schumacher F, Severi G, Sheng X, Signorello LB, Sinn HP, Stevens KN, Southey MC, Tapper WJ, Tomlinson I, Hogervorst FB, Wauters E, Weaver J, Wildiers H, Winqvist R, Berg DV, Wan P, Xia LY, Yannoukakos D, Zheng W, Ziegler RG, Siddiq A, Slager SL, Stram DO, Easton D, Kraft P, Henderson BE, Couch FJ. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet. 2011;43(12):1210-1214.

ATM and Breast Cancer Risk

Goldgar DE, Healey S, Dowty J, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM, Khanna K, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res. 2011;13(4):R73.

Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski RH, Wolitzer AL, Whittemore AS, West DW, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P. Population-based estimates of breast cancer risks associated with ATM gene variants c.T7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Human Mutation. 2006;27(11):1122-8.

CHECK2 and Breast Cancer Risk

Bernstein JL, Teraoka SN, John EM, Andrulis IL, Knight JA, Lapinski R, Olson ER, Wolitzer AL, Seminara D, Whittemore AS, Concannon P. The CHEK 2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2):348-52.

CDH and Breast Cancer Risk

Schrader L, Masciari S, Boyd N, Salamanca C, Senz J, Saunders DN, Yorida E, Maines-Bandiera S, Kaurah P, Tung N, Robson M, Ryan PD, Olopade OI, Domchek SM, Ford J, Isaacs C, Brown P, Balmana J, Miron P, Coffey K, Terry MB, John EM, Andrulis IL, Knight JA, O'Malley FP, Daly M, Bender P, kConFab²¹, Moore R, Southey MC, Hopper JL, Garber J, Huntsman DG. Germline mutations in CDH1 are infrequent in early-onset or familial lobular breast cancers. J Med Genetics. 2011;48(1):64-8.

Estrogen-metabolizing Genes and Breast Cancer Risk

Ahsan H, Whittemore AS, Chen Y, Senie RT, Hamilton SP, Wang Q, Gurvich I, Santella RM. Variants in estrogen-biosynthesis genes CYP17 and Cyp19 and breast cancer risk: a family-based genetic association study. Breast Cancer Res. 2005;7(1):R71-81.

Ahsan H, Chen Y, Whittemore AS, Kibriya MG, Gurvich I, Senie RT, Santella RM. A family-based genetic association study of variants in estrogen-metabolism genes COMT and CYP1B1 and breast cancer risk. Breast Cancer Res Treat. 2004;85(2):121-31.

Common and Rare Sequence Variants in Breast Cancer Risk

Le Calvez-Kelm F, Lesueir F, Damiola F, Vallee M, Guenard F, Voegele C, Durand G, Foreey N, McKay J, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes G, Durocher F, Breast Cancer Family Registry BCFR), Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility. Breast Cancer Res 2011;13(1):86.

Tavtigian SV, Oefner PJ, Babikyan D, Hatmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang S-C, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomes A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Australian Cancer Study, BCFR, kConFab, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Rare evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009;85(4):427-46.

Nguyen-Dumont T, Le Calvez-Kelm F, Forey N, McKay-Chopin S, Garritao S, Gioia-Patricola L, De Silva D, Weigel R, BCFR, kConFab, Sangrajrang S, Lesueur F, Tavtigian SV. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutation. 2009;30(6):884-90.

BCAC (Breast Cancer Association Studies Consortium) Consortium

Maxwell CA, Benítez J, Gómez-Baldó L, Osorio A, Bonifaci N, Fernández-Ramires R, Costes SV, Guinó E, Chen H, Evans GJ, Mohan P, Català I, Petit A, Aguilar H, Villanueva A, Aytes A, Serra-Musach J, Rennert G, Lejbkowicz F, Peterlongo P, Manoukian S, Peissel B, Ripamonti CB, Bonanni B, Viel A, Allavena A, Bernard L, Radice P, Friedman E, Kaufman B, Laitman Y, Dubrovsky M, Milgrom R, Jakubowska A, Cybulski C, Gorski B, Jaworska K, Durda K, Sukiennicki G, Lubiński J, Shugart YY, Domchek SM, Letrero R, Weber BL, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON; EMBRACE, Easton DF, Peock S, Cook M, Oliver C, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Eccles D, Douglas F, Brewer C, Nevanlinna H, Heikkinen T, Couch FJ, Lindor NM, Wang X, Godwin AK, Caligo MA, Lombardi G, Loman N, Karlsson P, Ehrencrona H, von Wachenfeldt A; SWE-BRCA, Bjork Barkardottir R, Hamann U, Rashid MU, Lasa A, Caldés T, Andrés R, Schmitt M, Assmann V, Stevens K, Offit K, Curado J, Tilgner H, Guigó R, Aiza G, Brunet J, Castellsagué J, Martrat G, Urruticoechea A, Blanco I, Tihomirova L, Goldgar DE, Buys S, John EM, Miron A, Southey M, Daly MB; BCFR, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Deissler H, Varon-Mateeva R, Sutter C, Niederacher D, Imyamitov E, Sinilnikova OM, Stoppa-Lyonne D, Mazoyer S, Verny-Pierre C, Castera L, de Pauw A, Bignon YJ, Uhrhammer N, Peyrat JP, Vennin P, Fert Ferrer S, Collonge-Rame MA, Mortemousque I; GEMO Study Collaborators, Spurdle AB, Beesley J, Chen X, Healey S; kConFab, Barcellos-Hoff MH, Vidal M, Gruber SB, Lázaro C, Capellá G, McGuffog L, Nathanson KL, Antoniou AC, Chenevix-Trench G, Fleisch MC, Moreno V, Pujana MA. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biol. 2011 Nov;9(11) e1001199.

Stevens KN, Garcia-Closas M, Fredericksen Z, Kosel M, Pankratz VS, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Van ''t Veer LJ, Tollenaar RA, Fasching PA, Beckmann MW, Hein A, Ekici AB, Johnson N, Peto J, Dos Santos Silva I, Gibson L, Sawyer E, Tomlinson I, Kerin MJ, Chanock S, Lissowska J, Hunter DJ, Hoover RN, Thomas GD, Milne RL, Pérez JA, González-Neira A, Benítez J, Burwinkel B, Meindl A, Schmutzler RK, Bartrar CR, Hamann U, Ko YD, Brüning T, Chang-Claude J, Hein R, Wang-Gohrke S, Dörk T, Schürmann P, Bremer M, Hillemanns P, Bogdanova N, Zalutsky JV, Rogov YI, Antonenkova N, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen J, Chenevix-Trench G, Chen X, Peterlongo P, Bonanni B, Bernard L, Manoukian S, Wang X, Cerhan J, Vachon CM, Olson J, Giles GG, Baglietto L, McLean CA, Severi G, John EM, Miron A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis I, Knight JA, Glendon G, Mulligan AM, Cox A, Brock IW, Elliott G, Cross SS, Pharoah PP, Dunning AM, Pooley KA, Humphreys MK, Wang J, Kang D, Yoo KY, Noh DY, Sangrajrang S, Gabrieau V, Brennan P, McKay J, Anton-Culver H, Ziogas A, Couch FJ, Easton DF. Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. Br J Cancer. 2011 Dec 6;105(12):1934-9.

Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van 't Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, Benítez J, Milne R, Arias JI, Zamora MP, Brenner H, Müller H, Arndt V, Rahman N, Turnbull C, Seal S, Renwick A, Brauch H, Justenhoven C, Brüningv T; The GENICA network, Chang-Claude J, Hein R, Wang-Gohrke S, Dörk T, Schürmann P, Bremer M, Hillemanns P, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Bogdanova N, Antonenkovav N, Rogov Y, Karstens JH, Bermisheva M, Prokofyeva D, Gancev SH, Khusnutdinova E, Lindblom A, Margolin S, Chenevix-Trench G, Beesley J, Chen X; kConFab AOCS Management Group, Mannermaa A, Kosma VM, Soini Y, Kataja V, Lambrechts D, Yesilyurt BT, Chrisiaens MR, Peeters S, Radice P, Peterlongo P, Manoukian S, Barile M, Couch F, Lee AM, Diasio R, Wang X, Giles GG, Severi G, Baglietto L, Maclean C, Offit K, Robson M, Joseph V, Gaudet M, John EM, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis I, Knight JA, Mulligan AM, O'Malley FP, Brinton L, Sherman M, Lissowska J, Chanock S, Hooning M, Martens JW, van den Ouweland AM, Collée JM, Hall P, Czene K, Cox A, Brock IW, Reed MW, Cross SS, Pharoah P, Dunning AM, Kang D, Yoo KY, Noh DY, Ahn SH, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Shen CY, Ding SL, Hsu HM, Yu JC, Anton-Culver H, Ziogas A, Ashworth A, Swerdlow A, Jones M, Orr N, Trentham-Dietz A, Egan K, Newcomb P, Titus-Ernstoff L, Easton D, Spurdle AB. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium. Human Molecular Genetics. 2011 Dec 1;20(23):4693-4706.

Milne RL, Goode EL, Garcia-Closas M, Couch FJ, Severi G, Hein R, Fredericksen Z, Malats N, Zamora MP, Ignacio Arias Perez J, Benítez J, Dork T, Schurmann P, Karstens JH, Hillemanns P, Cox A, Brock IW, Elliott G, Cross SS, Seal S, Turnbull C, Renwick A, Rahman N, Shen CY, Yu JC, Huang CS, Hou MF, Nordestgaard BG, Bojesen SE, Lanng C, Grenaker Alnaes G, Kristensen V, Borresen-Dale AL, Hopper JL, Dite GS, Apicella C, Southey MC, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Chang-Claude J, Wang-Gohrke S, Radice P, Peterlongo P, Manoukian S, Barile M, Giles GG, Baglietto L, John EM, Miron A, Chanock SJ, Lissowska J, Sherman ME, Figueroa JD, Bogdanova NV, Antonenkova NN, Zalutsky IV, Rogov YI, Fasching PA, Bayer CM, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Meindl A, Heil J, Bartram CR, Schmutzler RK, Thomas GD, Hoover RN, Fletcher O, Gibson LJ, Dos Santos Silva I, Peto J, Nickels S, Flesch-Janys D, Anton-Culver H, Ziogas A, Sawyer E, Tomlinson I, Kerin M, Miller N, Schmidt MK, Broeks A, Vant Veer LJ, Tollenaar RA, Pharoah PD, Dunning AM, Pooley KA, Marmee F, Schneeweiss A, Sohn C, Burwinkel B, Jakubowska A, Lubinski J, Jaworska K, Durda K, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Kraft P, Lindström S, Chen X, Beesley J, Hamann U, Harth V, Justenhoven C, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Hooning M, Hollestelle A, Oldenburg RA, Tilanus-Linthorst M, Khusnutdinova E, Bermisheva M, Prokofieva D, Farahtdinova A, Olson JE, Wang X, Humphreys MK, Wang Q, Chenevix-Trench G, Easton DF. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev. 2011 Oct;20(10):2222-31.

Martrat G, Maxwell CA, Tominaga E, Porta M, Bonifaci N, Gomez-Baldo L, Bogliolo M, Lazaro C, Blanco I, Brunet J, Aguilar H, Fernandez-Rodriguez J, Seal S, Renwick A, Rahman N, Kuhl J, Neveling K, Schindler D, Ramirez MJ, Castella M, Hernandez G, Embrace ES, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Ong KR, Cook J, Douglas F, Hodgson S, Brewer C, Morrison PJ, Porteous M, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Pasini B, Ottini L, Putignano AL, Savarese A, Bernard L, Radice P, Healey S, Spurdle A, Chen X, Beesley J, Kconfab KC, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Asperen CJ, Bodmer D, Ausems MG, van Os TA, Blok MJ, Meijers-Heijboer HE, Hogervorst FB, Hebon HB, Goldgar DE, Buys S, John EM, Miron A, Southey M, Daly MB, Bcfr BC, Swe-Brca SB, Harbst K, Borg A, Rantala J, Barbany-Bustinza G, Ehrencrona H, Stenmark-Askmalm M, Kaufman B, Laitman Y, Milgrom R, Friedman E, Domchek SM, Nathanson KL, Rebbeck TR, Johannsson OT, Couch FJ, Wang X, Fredericksen Z, Cuadras D, Moreno V, Pientka FK, Depping R, Caldes T, Osorio A, Benitez J, Bueren J, Heikkinen T, Nevanlinna H, Hamann U, Torres D, Caligo MA, Godwin AK, Imyanitov EN, Janavicius R, Gemo GG, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Verny-Pierre C, Castera L, de Pauw A, Bignon YJ, Uhrhammer N, Peyrat JP, Vennin P, Fert Ferrer S, Collonge-Rame MA, Mortemousque I, McGuffog L, Chenevix-Trench G, Pereira-Smith OM, Antoniou AC, Ceron J, Tominaga K, Surralles J, Pujana MA. Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Res. 2011;13(2):R40.

Yang XR*, Chang-Claude J*, Goode EL, Couch FJ, Nevanlinna H, Milne RL, Gaudet M, Schmidt MK, Broeks A, Cox A, Fasching PA, Hein R, Spurdle AB, Blows F, Driver K, Flesch-Janys D, Heinz J, Sinn P, Vrieling A, Heikkinen T, Aittomaki K, Keikkila P, Blomqvist C, Lissowska J, Peplonska B, Chanock S, Fgueroa J, Brionton L, Hall P, Czene K, Humphreys K, Darabi H, Liu J, Van ‘t Veer LJ, van Leeuwen FE, Andrulis IL, Glendon G, Knight JA, Mulligan AM, O’Malley FP, Weerasooriya N, John EM, Beckman MW, Hartmann A, Weihbrecht SB, Wachter DL, et al. Humphreys M, Easton D, Pharoah P**, Sherman ME**, Garcia-Closas M**. Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the Breast Cancer Association Consortium Studies. J Natl Cancer Inst. 2011;103(3):250-63.

Milne ML*, Gaudet MM*, Spurdle AB*, Fasching PA*, Couch FJ*, Benítez J, Pérez JIA, Zamora MP, Malats N, dos Santos Silva I, Gibson LJ, Fletcher O, Johnson N, Anton-Culver H, Ziogas A, Figueroa J, Brinton L, Sherman ME, Lissowska J, Hopper JL, Dite GS, Apicella C, Southey MC, Sigurdson AJ, Linet MS, Schonfeld SJ, Freedman DM, Mannermaa A, Kosma VM, Kataja V, Auvinen P, Andrulis IL, Glendon G, Knight JK, Weerasooriya N, Cox A, Reed MWR, Cross S, Dunning AM, Ahmed S, Shah M, Brauch H, Ko YD, Brüning T and the GENICA Network, Lambrechts D, Reumers J, Smeets A, Wang-Gohrke S, Hall P, Czene K, Liu J, Irwanto AK, Chenevix-Trench G, Holland H, kConFab, AOCS, Giles GG, Baglietto L, Severi G, Bojensen S, Nordestgaard BG, Flyger H, John EM, West D, Whittemore AS, Vachon C, Olson JE, Fredericksen Z, Kosel M, Hein R, Vrieling A, Flesch-Janys D, Hein J, Beckmann M, Heusinger K, Ekici A, Haeberle L, Humphreys MK, Morrison J, Easton DF, Pharoah PD, García-Closas M*, Goode ML*, Chang-Claude J*. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: A combined case-control study. Breast Cancer Res. 2010;(12(6):R110.

Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, GEMO Study Collaborators, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Roozendaal KE; HEBON Study Collaborators, Piedmonte M, Rubinstein W, Nerenstone S, Van Le L, Blank SV, Caldés T, de la Hoya M, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Arason A, Johannsson OT, Barkardottir RB, Devilee P, Olopade OI, Neuhausen SL, Wang X, Fredericksen ZS, Peterlongo P, Manoukian S, Barile M, Viel A, Radice P, Phelan CM, Narod S, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Toland AE, Montagna M, D'Andrea E, Friedman E, Laitman Y, Borg A, Beattie M, Ramus SJ, Domchek SM, Nathanson KL, Rebbeck T, Spurdle AB, Chen X, Holland H; kConFab, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Overeem Hansen TV, Nielsen FC, Greene MI, Mai PL, Osorio A, Durán M, Andres R, Benítez J, Weitzel JN, Garber J, Hamann U, Peock S, Cook M, Oliver C, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Walker L, Eason J, Barwell J, Godwin AK, Schmutzler RK, Wappenschmidt B, Engert S, Arnold N, Gadzicki D, Dean M, Gold B, Klein RJ, Couch FJ, Chenevix-Trench G, Easton DF, Daly MJ, Antoniou AC, Altshuler DM, Offit K, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, Sinilnikova O, Barjhoux L, Giraud S, Léone M, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C, Moncoutier V, Belotti M, de Pauw A, Bressac-de-Paillerets B, Remenieras A, Byrde V, Caron O, Lenoir G, Bignon YJ, Uhrhammer N, Lasset C, Bonadona V, Hardouin A, Berthet P, Sobol H, Bourdon V, Noguchi T, Eisinger F, Coulet F, Colas C, Soubrier F, Coupier I, Peyrat JP, Fournier J, Révillion F, Vennin P, Adenis C, Rouleau E, Lidereau R, Demange L, Nogues C, Muller D, Fricker JP, Longy M, Sevenet N, Toulas C, Guimbaud R, Gladieff L, Feillel V, Leroux D, Dreyfus H, Rebischung C, Cassini C, Faivre L, Prieur F, Ferrer SF, Frénay M, Vénat-Bouvet L, Lynch HT, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Roozendaal KE, Hogervorst FB, Verhoef S, Verheus M, van 't Veer LJ, van Leeuwen FE, Rookus MA, Collée M, van den Ouweland AM, Jager A, Hooning MJ, Tilanus-Linthorst MM, Seynaeve C, van Asperen CJ, Wijnen JT, Vreeswijk MP, Tollenaar RA, Devilee P, Ligtenberg MJ, Hoogerbrugge N, Ausems MG, van der Luijt RB, Aalfs CM, van Os TA, Gille JJ, Waisfisz Q, Meijers-Heijboer H, Gomez-Garcia EB, van Roozendaal CE, Blok MJ, Oosterwijk JC, van der Hout AH, Mourits MJ, Vasen HF, Spurdle AB, Chenevix-Trench G. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet. 2010 Oct 28;6(10):e1001183.

BCAC (Breast Cancer Association Studies Consortium) Consortium

Greenwood CMT, Paterson AD, Linton L, Andrulis IL, Apicella C, Dimitromanolakis A, Kriukov V, Martin LJ, Salleh A, Samiltchuk E, Parekh RV, Southey MC, John EM, Hopper JL, Boyd NF, Rommens JM. A genome-wide linkage study of mammographic density, a risk factor for breast cancer. Breast Cancer Res. 2011 Dec 21;13(6):R132. [Epub ahead of print]

Predictors of Mortality after Breast Cancer Diagnosis

Keegan THM, Milne RL, Phillips KA, Chang ET, Sangaramoorthy M, Andrulis IL, Hopper JL, Whittemore AS, John EM. Past recreational physical activity, body size, and all-cause mortality following breast cancer diagnosis: results from the Breast Cancer Family Registry. Breast Cancer Res Treat. 2010;123(2):531-542.

Phillips KA, Milne RL, West DW, Goodwin PJ, Giles GG, Chang ET, Figueiredo JC, Friedlander ML, Keegan THM, Glendon G, Apicella C, O’Malley FP, Southey MC, Andrulis IL, John EM, Hopper JL. Pre-diagnosis reproductive factors and all-cause mortality for women with breast cancer in the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev. 2009;18(6):1792-7.

Chang ET, Milne RL, Phillips KA, Figueiredo JC, Sangaramoorthy M, Keegan THM, Andrulis IL, Hopper JL, Goodwin PJ, O’Malley FP, Weerasooriya N, Apicella C, Southey MC, Friedlander ML, Giles GG, Whittemore, AS, West DW, John EM. Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry. Breast Cancer Res & Treat. 2009;117(1):167-76.

Psychosocial Studies

Turner-Cobb JM, Bloor LE, Whittemore AS, West D, Spiegel D. Disengagement and social support moderate distress among women with a family history of breast cancer. Breast J. 2006 Jan-Feb;12(1):7-15.

Methodologic Studies

Milne RL, John EM, Knight J, Dite GS, Southey MC, Giles GG, Apicella C, West DW, Andrulis IL, Whittemore AS, Hopper JL. The value of sibling controls compared with population controls in association studies of lifestyle-related factors: an example from the Breast Cancer Family Registry. Int J Epidemiol. 2011 Oct;40(5):1342-1354.

McClure LA, Glaser SL, Shema SJ, Allen L, Quesenberry C, John EM, Gomez SL. Availability and accuracy of medical record information on language usage by multi-ethnic cancer patients. Journal of Immigrant and Minority Health. 2010;12(4):480-8.

Jasmine F, Ahsan H, Andrulis IL, John EM, Chang-Claude J, Kibriya MG. Whole-genome amplification enables accurate genotyping for microarray-based high-density single nucleotide polymorphism array. Cancer Epidemiol Biomarkers Prev. 2008;17(12):3499-508.

Longacre TA, Ennis M, Quenneville LA, Bane AL, Bleiweiss IJ, Carter BA, Catelano E, Hendrickson MR, Hibshoosh H, Layfield LJ, Memeo L, Wu H, O'malley FP. Interobserver agreement and reproducibility in classification of invasive breast carcinoma: an NCI breast cancer family registry study. Mod Pathol. 2006 Feb;19(2):195-207.

Beck JC, Beiswanger CM, John EM, Satariano E, West DW. Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies. Cancer Epidemiol Biomarkers Prev. 2001;10:551-54.

Gomez SL, Glaser SL. Misclassification of race/ethnicity in a population-based cancer registry (United States). Cancer Causes Control. 2006 Aug;17(6):771-81.

Gomez SL, Glaser SL. Quality of cancer registry birthplace data for Hispanics living in the United States. Cancer Causes Control. 2005 Aug;16(6):713-23.

Gomez SL, Glaser SL. Quality of birthplace information obtained from death certificates for Hispanics, Asians, and Pacific Islanders. Ethn Dis. 2004;14(2):292-5.

Lin SS, O'Malley CD, Clarke CA, Le GM. Birthplace and survival among Asian women diagnosed with breast cancer in cancer registry data: the impact of selection bias (letter). Int J Epidemiol 2002. Apr;31(2):511-3.

Lin SS, Clarke CA, O'Malley CD, Le GM. Studying cancer incidence and outcomes in immigrants: methodological concerns. Am J Public Health. 2002 Nov;92(11):1757-9.