Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Amanda B. Spurdle; Louise Marquart; Lesley McGuffog; Sue Healey; Olga Sinilnikova; Fei Wan; Xiaoqing Chen; Jonathan Beesley; Christian F. Singer; Anne Catharine Dressler; Daphne Gschwantler-Kaulich; Joanne L. Blum; Nadine Tung; Jeff Weitzel; Henry Lynch; Judy Garber; Douglas F. Easton; Susan Peock; Margaret Cook; Clare T. Oliver; Debra Frost; Don Conroy; D. Gareth Evans; Fiona Lalloo; Ros Eeles; Louise Izatt; Rosemarie Davidson; Carol Chu; Diana Eccles; Christina G. Selkirk; Mary Daly; Claudine Isaacs; Dominique Stoppa-Lyonnet; Olga M. Sinilnikova; Bruno Buecher; Muriel Belotti; Sylvie Mazoyer; Laure Barjhoux; Carole Verny-Pierre; Christine Lasset; Hélène Dreyfus; Pascal Pujol; Marie Agnès Collonge-Rame; Matti A. Rookus; Senno Verhoef; Mieke Kriege; Nicoline Hoogerbrugge; Margreet G.E.M. Ausems; Theo A. Van Os; Juul Wijnen; Peter Devilee; Hanne E.J. Meijers-Heijboer; Marinus J. Blok; Tuomas Heikkinen; Heli Nevanlinna; Anna Jakubowska; Jan Lubiński; Tomasz Huzarski; Tomasz Byrski; Francine Durocher; Fergus J. Couch; Noralane M. Lindor; Xianshu Wang; Mads Thomassen; Susan Domchek; Kate Nathanson; M. A. Caligo; Helena Jernström; Annelie Liljegren; Hans Ehrencrona; Per Karlsson; Patricia A. Ganz; Olufunmilayo I. Olopade; Gail Tomlinson; Susan Neuhausen; Antonis C. Antoniou; Georgia Chenevix-Trench; Timothy R. Rebbeck

doi:10.1158/1055-9965.EPI-10-0909

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Amanda B. Spurdle, Louise Marquart, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Fei Wan, Xiaoqing Chen, Jonathan Beesley, Christian F. Singer, Anne Catharine Dressler, Daphne Gschwantler-Kaulich, Joanne L. Blum, Nadine Tung, Jeff Weitzel, Henry Lynch, Judy Garber, Douglas F. Easton, Susan Peock, Margaret Cook, Clare T. OliverDebra Frost, Don Conroy, D. Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Rosemarie Davidson, Carol Chu, Diana Eccles, Christina G. Selkirk, Mary Daly, Claudine Isaacs, Dominique Stoppa-Lyonnet, Olga M. Sinilnikova, Bruno Buecher, Muriel Belotti, Sylvie Mazoyer, Laure Barjhoux, Carole Verny-Pierre, Christine Lasset, Hélène Dreyfus, Pascal Pujol, Marie Agnès Collonge-Rame, Matti A. Rookus, Senno Verhoef, Mieke Kriege, Nicoline Hoogerbrugge, Margreet G.E.M. Ausems, Theo A. Van Os, Juul Wijnen, Peter Devilee, Hanne E.J. Meijers-Heijboer, Marinus J. Blok, Tuomas Heikkinen, Heli Nevanlinna, Anna Jakubowska, Jan Lubiński, Tomasz Huzarski, Tomasz Byrski, Francine Durocher, Fergus J. Couch, Noralane M. Lindor, Xianshu Wang, Mads Thomassen, Susan Domchek, Kate Nathanson, M. A. Caligo, Helena Jernström, Annelie Liljegren, Hans Ehrencrona, Per Karlsson, Patricia A. Ganz, Olufunmilayo I. Olopade, Gail Tomlinson, Susan Neuhausen, Antonis C. Antoniou, Georgia Chenevix-Trench, Timothy R. Rebbeck

Department of Preventive Medicine

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.

Original language	English (US)
Pages (from-to)	1032-1038
Number of pages	7
Journal	Cancer Epidemiology Biomarkers and Prevention
Volume	20
Issue number	5
DOIs	https://doi.org/10.1158/1055-9965.EPI-10-0909
State	Published - May 2011

All Science Journal Classification (ASJC) codes

Epidemiology
Oncology

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Spurdle, A. B., Marquart, L., McGuffog, L., Healey, S., Sinilnikova, O., Wan, F., Chen, X., Beesley, J., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Blum, J. L., Tung, N., Weitzel, J., Lynch, H., Garber, J., Easton, D. F., Peock, S., Cook, M., ... Rebbeck, T. R. (2011). Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 20(5), 1032-1038. https://doi.org/10.1158/1055-9965.EPI-10-0909

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers. / Spurdle, Amanda B.; Marquart, Louise; McGuffog, Lesley; Healey, Sue; Sinilnikova, Olga; Wan, Fei; Chen, Xiaoqing; Beesley, Jonathan; Singer, Christian F.; Dressler, Anne Catharine; Gschwantler-Kaulich, Daphne; Blum, Joanne L.; Tung, Nadine; Weitzel, Jeff; Lynch, Henry; Garber, Judy; Easton, Douglas F.; Peock, Susan; Cook, Margaret; Oliver, Clare T.; Frost, Debra; Conroy, Don; Evans, D. Gareth; Lalloo, Fiona; Eeles, Ros; Izatt, Louise; Davidson, Rosemarie; Chu, Carol; Eccles, Diana; Selkirk, Christina G.; Daly, Mary; Isaacs, Claudine; Stoppa-Lyonnet, Dominique; Sinilnikova, Olga M.; Buecher, Bruno; Belotti, Muriel; Mazoyer, Sylvie; Barjhoux, Laure; Verny-Pierre, Carole; Lasset, Christine; Dreyfus, Hélène; Pujol, Pascal; Collonge-Rame, Marie Agnès; Rookus, Matti A.; Verhoef, Senno; Kriege, Mieke; Hoogerbrugge, Nicoline; Ausems, Margreet G.E.M.; Van Os, Theo A.; Wijnen, Juul; Devilee, Peter; Meijers-Heijboer, Hanne E.J.; Blok, Marinus J.; Heikkinen, Tuomas; Nevanlinna, Heli; Jakubowska, Anna; Lubiński, Jan; Huzarski, Tomasz; Byrski, Tomasz; Durocher, Francine; Couch, Fergus J.; Lindor, Noralane M.; Wang, Xianshu; Thomassen, Mads; Domchek, Susan; Nathanson, Kate; Caligo, M. A.; Jernström, Helena; Liljegren, Annelie; Ehrencrona, Hans; Karlsson, Per; Ganz, Patricia A.; Olopade, Olufunmilayo I.; Tomlinson, Gail; Neuhausen, Susan; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Rebbeck, Timothy R.

In: Cancer Epidemiology Biomarkers and Prevention, Vol. 20, No. 5, 05.2011, p. 1032-1038.

Research output: Contribution to journal › Article › peer-review

Spurdle, AB, Marquart, L, McGuffog, L, Healey, S, Sinilnikova, O, Wan, F, Chen, X, Beesley, J, Singer, CF, Dressler, AC, Gschwantler-Kaulich, D, Blum, JL, Tung, N, Weitzel, J, Lynch, H, Garber, J, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Conroy, D, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Davidson, R, Chu, C, Eccles, D, Selkirk, CG, Daly, M, Isaacs, C, Stoppa-Lyonnet, D, Sinilnikova, OM, Buecher, B, Belotti, M, Mazoyer, S, Barjhoux, L, Verny-Pierre, C, Lasset, C, Dreyfus, H, Pujol, P, Collonge-Rame, MA, Rookus, MA, Verhoef, S, Kriege, M, Hoogerbrugge, N, Ausems, MGEM, Van Os, TA, Wijnen, J, Devilee, P, Meijers-Heijboer, HEJ, Blok, MJ, Heikkinen, T, Nevanlinna, H, Jakubowska, A, Lubiński, J, Huzarski, T, Byrski, T, Durocher, F, Couch, FJ, Lindor, NM, Wang, X, Thomassen, M, Domchek, S, Nathanson, K, Caligo, MA, Jernström, H, Liljegren, A, Ehrencrona, H, Karlsson, P, Ganz, PA, Olopade, OI, Tomlinson, G, Neuhausen, S, Antoniou, AC, Chenevix-Trench, G & Rebbeck, TR 2011, 'Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers', Cancer Epidemiology Biomarkers and Prevention, vol. 20, no. 5, pp. 1032-1038. https://doi.org/10.1158/1055-9965.EPI-10-0909

Spurdle, Amanda B. ; Marquart, Louise ; McGuffog, Lesley ; Healey, Sue ; Sinilnikova, Olga ; Wan, Fei ; Chen, Xiaoqing ; Beesley, Jonathan ; Singer, Christian F. ; Dressler, Anne Catharine ; Gschwantler-Kaulich, Daphne ; Blum, Joanne L. ; Tung, Nadine ; Weitzel, Jeff ; Lynch, Henry ; Garber, Judy ; Easton, Douglas F. ; Peock, Susan ; Cook, Margaret ; Oliver, Clare T. ; Frost, Debra ; Conroy, Don ; Evans, D. Gareth ; Lalloo, Fiona ; Eeles, Ros ; Izatt, Louise ; Davidson, Rosemarie ; Chu, Carol ; Eccles, Diana ; Selkirk, Christina G. ; Daly, Mary ; Isaacs, Claudine ; Stoppa-Lyonnet, Dominique ; Sinilnikova, Olga M. ; Buecher, Bruno ; Belotti, Muriel ; Mazoyer, Sylvie ; Barjhoux, Laure ; Verny-Pierre, Carole ; Lasset, Christine ; Dreyfus, Hélène ; Pujol, Pascal ; Collonge-Rame, Marie Agnès ; Rookus, Matti A. ; Verhoef, Senno ; Kriege, Mieke ; Hoogerbrugge, Nicoline ; Ausems, Margreet G.E.M. ; Van Os, Theo A. ; Wijnen, Juul ; Devilee, Peter ; Meijers-Heijboer, Hanne E.J. ; Blok, Marinus J. ; Heikkinen, Tuomas ; Nevanlinna, Heli ; Jakubowska, Anna ; Lubiński, Jan ; Huzarski, Tomasz ; Byrski, Tomasz ; Durocher, Francine ; Couch, Fergus J. ; Lindor, Noralane M. ; Wang, Xianshu ; Thomassen, Mads ; Domchek, Susan ; Nathanson, Kate ; Caligo, M. A. ; Jernström, Helena ; Liljegren, Annelie ; Ehrencrona, Hans ; Karlsson, Per ; Ganz, Patricia A. ; Olopade, Olufunmilayo I. ; Tomlinson, Gail ; Neuhausen, Susan ; Antoniou, Antonis C. ; Chenevix-Trench, Georgia ; Rebbeck, Timothy R. / Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers. In: Cancer Epidemiology Biomarkers and Prevention. 2011 ; Vol. 20, No. 5. pp. 1032-1038.

@article{25abcc56b0b24ab388f5c4c5d0890c39,

title = "Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers",

abstract = "Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.",

author = "Spurdle, {Amanda B.} and Louise Marquart and Lesley McGuffog and Sue Healey and Olga Sinilnikova and Fei Wan and Xiaoqing Chen and Jonathan Beesley and Singer, {Christian F.} and Dressler, {Anne Catharine} and Daphne Gschwantler-Kaulich and Blum, {Joanne L.} and Nadine Tung and Jeff Weitzel and Henry Lynch and Judy Garber and Easton, {Douglas F.} and Susan Peock and Margaret Cook and Oliver, {Clare T.} and Debra Frost and Don Conroy and Evans, {D. Gareth} and Fiona Lalloo and Ros Eeles and Louise Izatt and Rosemarie Davidson and Carol Chu and Diana Eccles and Selkirk, {Christina G.} and Mary Daly and Claudine Isaacs and Dominique Stoppa-Lyonnet and Sinilnikova, {Olga M.} and Bruno Buecher and Muriel Belotti and Sylvie Mazoyer and Laure Barjhoux and Carole Verny-Pierre and Christine Lasset and H{\'e}l{\`e}ne Dreyfus and Pascal Pujol and Collonge-Rame, {Marie Agn{\`e}s} and Rookus, {Matti A.} and Senno Verhoef and Mieke Kriege and Nicoline Hoogerbrugge and Ausems, {Margreet G.E.M.} and {Van Os}, {Theo A.} and Juul Wijnen and Peter Devilee and Meijers-Heijboer, {Hanne E.J.} and Blok, {Marinus J.} and Tuomas Heikkinen and Heli Nevanlinna and Anna Jakubowska and Jan Lubi{\'n}ski and Tomasz Huzarski and Tomasz Byrski and Francine Durocher and Couch, {Fergus J.} and Lindor, {Noralane M.} and Xianshu Wang and Mads Thomassen and Susan Domchek and Kate Nathanson and Caligo, {M. A.} and Helena Jernstr{\"o}m and Annelie Liljegren and Hans Ehrencrona and Per Karlsson and Ganz, {Patricia A.} and Olopade, {Olufunmilayo I.} and Gail Tomlinson and Susan Neuhausen and Antoniou, {Antonis C.} and Georgia Chenevix-Trench and Rebbeck, {Timothy R.}",

year = "2011",

month = may,

doi = "10.1158/1055-9965.EPI-10-0909",

language = "English (US)",

volume = "20",

pages = "1032--1038",

journal = "Cancer Epidemiology Biomarkers and Prevention",

issn = "1055-9965",

publisher = "American Association for Cancer Research Inc.",

number = "5",

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TY - JOUR

T1 - Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

AU - Spurdle, Amanda B.

AU - Marquart, Louise

AU - McGuffog, Lesley

AU - Healey, Sue

AU - Sinilnikova, Olga

AU - Wan, Fei

AU - Chen, Xiaoqing

AU - Beesley, Jonathan

AU - Singer, Christian F.

AU - Dressler, Anne Catharine

AU - Gschwantler-Kaulich, Daphne

AU - Blum, Joanne L.

AU - Tung, Nadine

AU - Weitzel, Jeff

AU - Lynch, Henry

AU - Garber, Judy

AU - Easton, Douglas F.

AU - Peock, Susan

AU - Cook, Margaret

AU - Oliver, Clare T.

AU - Frost, Debra

AU - Conroy, Don

AU - Evans, D. Gareth

AU - Lalloo, Fiona

AU - Eeles, Ros

AU - Izatt, Louise

AU - Davidson, Rosemarie

AU - Chu, Carol

AU - Eccles, Diana

AU - Selkirk, Christina G.

AU - Daly, Mary

AU - Isaacs, Claudine

AU - Stoppa-Lyonnet, Dominique

AU - Sinilnikova, Olga M.

AU - Buecher, Bruno

AU - Belotti, Muriel

AU - Mazoyer, Sylvie

AU - Barjhoux, Laure

AU - Verny-Pierre, Carole

AU - Lasset, Christine

AU - Dreyfus, Hélène

AU - Pujol, Pascal

AU - Collonge-Rame, Marie Agnès

AU - Rookus, Matti A.

AU - Verhoef, Senno

AU - Kriege, Mieke

AU - Hoogerbrugge, Nicoline

AU - Ausems, Margreet G.E.M.

AU - Van Os, Theo A.

AU - Wijnen, Juul

AU - Devilee, Peter

AU - Meijers-Heijboer, Hanne E.J.

AU - Blok, Marinus J.

AU - Heikkinen, Tuomas

AU - Nevanlinna, Heli

AU - Jakubowska, Anna

AU - Lubiński, Jan

AU - Huzarski, Tomasz

AU - Byrski, Tomasz

AU - Durocher, Francine

AU - Couch, Fergus J.

AU - Lindor, Noralane M.

AU - Wang, Xianshu

AU - Thomassen, Mads

AU - Domchek, Susan

AU - Nathanson, Kate

AU - Caligo, M. A.

AU - Jernström, Helena

AU - Liljegren, Annelie

AU - Ehrencrona, Hans

AU - Karlsson, Per

AU - Ganz, Patricia A.

AU - Olopade, Olufunmilayo I.

AU - Tomlinson, Gail

AU - Neuhausen, Susan

AU - Antoniou, Antonis C.

AU - Chenevix-Trench, Georgia

AU - Rebbeck, Timothy R.

PY - 2011/5

Y1 - 2011/5

N2 - Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.

AB - Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.

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DO - 10.1158/1055-9965.EPI-10-0909

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AN - SCOPUS:79955775590

VL - 20

SP - 1032

EP - 1038

JO - Cancer Epidemiology Biomarkers and Prevention

JF - Cancer Epidemiology Biomarkers and Prevention

SN - 1055-9965

IS - 5

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