Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Mia M Gaudet; Tomas Kirchhoff; Todd Green; Joseph Vijai; Joshua M Korn; Candace Guiducci; Ayellet V Segrè; Kate McGee; Lesley McGuffog; Christiana Kartsonaki; Jonathan Morrison; Sue Healey; Olga M Sinilnikova; Dominique Stoppa-Lyonnet; Sylvie Mazoyer; Marion Gauthier-Villars; Hagay Sobol; Michel Longy; Marc Frenay; null GEMO Study Collaborators; Frans B L Hogervorst; Matti A Rookus; J Margriet Collée; Nicoline Hoogerbrugge; Kees E P van Roozendaal; Marion Piedmonte; Wendy Rubinstein; Stacy Nerenstone; Linda Van Le; Stephanie V Blank; Trinidad Caldés; Miguel de la Hoya; Heli Nevanlinna; Kristiina Aittomäki; Conxi Lazaro; Ignacio Blanco; Adalgeir Arason; Oskar T Johannsson; Rosa B Barkardottir; Peter Devilee; Olofunmilayo I Olopade; Susan L Neuhausen; Xianshu Wang; Zachary S Fredericksen; Paolo Peterlongo; Siranoush Manoukian; Monica Barile; Alessandra Viel; Thomas V Overeem Hansen; Finn C Nielsen; HEBON Study Collaborators

doi:10.1371/journal.pgen.1001183

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Mia M Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M Korn, Candace Guiducci, Ayellet V Segrè, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study CollaboratorsFrans B L Hogervorst, Matti A Rookus, J Margriet Collée, Nicoline Hoogerbrugge, Kees E P van Roozendaal, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone, Linda Van Le, Stephanie V Blank, Trinidad Caldés, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Adalgeir Arason, Oskar T Johannsson, Rosa B Barkardottir, Peter Devilee, Olofunmilayo I Olopade, Susan L Neuhausen, Xianshu Wang, Zachary S Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Alessandra Viel, Thomas V Overeem Hansen, Finn C Nielsen, HEBON Study Collaborators

Department of Clinical Biochemistry

81 Citations (Scopus)

Abstract

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (

Original language	English
Journal	P L o S Genetics
Volume	6
Issue number	10
Pages (from-to)	e1001183
ISSN	1553-7390
DOIs	https://doi.org/10.1371/journal.pgen.1001183
Publication status	Published - 1 Oct 2010

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Gaudet, M. M., Kirchhoff, T., Green, T., Vijai, J., Korn, J. M., Guiducci, C., Segrè, A. V., McGee, K., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Gauthier-Villars, M., Sobol, H., Longy, M., Frenay, M., ... HEBON Study Collaborators (2010). Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. P L o S Genetics, 6(10), e1001183. https://doi.org/10.1371/journal.pgen.1001183

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, FBL, Rookus, MA, Collée, JM, Hoogerbrugge, N, van Roozendaal, KEP, 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, Overeem Hansen, TV , Nielsen, FC & HEBON Study Collaborators 2010, 'Common genetic variants and modification of penetrance of BRCA2-associated breast cancer', P L o S Genetics, vol. 6, no. 10, pp. e1001183. https://doi.org/10.1371/journal.pgen.1001183

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AU - GEMO Study Collaborators, null

AU - Hogervorst, Frans B L

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AU - Blanco, Ignacio

AU - Arason, Adalgeir

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AU - Devilee, Peter

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AU - Neuhausen, Susan L

AU - Wang, Xianshu

AU - Fredericksen, Zachary S

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Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Abstract

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