Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
- Gaudet, MM
- Kirchhoff, T
- Green, T
- Vijai, J
- Korn, JM
- Guiducci, C
- Segre, 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
- Hogervorst, FBL
- Rookus, MA
- Collee, JM
- Hoogerbrugge, N
- van Roozendaal, KEP
- Piedmonte, M
- Rubinstein, W
- Nerenstone, S
- Van Le, L
- Blank, SV
- Caldes, T
- de la Hoya, M
- Nevanlinna, H
- Aittomaki, 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
- 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
- John, EM
- Hopper, JL
- Buys, SS
- Daly, MB
- Southey, MC
- Terry, MB
- Tung, N
- Hansen, TVO
- Nielsen, FC
- Greene, MI
- Mai, PL
- Osorio, A
- Duran, M
- Andres, R
- Benitez, 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
DOIAbstract
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 (<40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (λ) was 1.011. The stage 1 association analysis revealed multiple vari...
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