Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
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Authors
Antoniou, Antonis CBeesley, Jonathan
McGuffog, Lesley
Sinilnikova, Olga M
Healey, Sue
Neuhausen, Susan L
Ding, Yuan Chun
Rebbeck, Timothy R
Weitzel, Jeffrey N
Lynch, Henry T
Isaacs, Claudine
Ganz, Patricia A
Tomlinson, Gail
Olopade, Olufunmilayo I
Couch, Fergus J
Wang, Xianshu
Lindor, Noralane M
Pankratz, Vernon S
Radice, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Barile, Monica
Viel, Alessandra
Allavena, Anna
Dall'Olio, Valentina
Peterlongo, Paolo
Szabo, Csilla I
Zikan, Michal
Claes, Kathleen
Poppe, Bruce
Foretova, Lenka
Mai, Phuong L
Greene, Mark H
Rennert, Gad
Lejbkowicz, Flavio
Glendon, Gord
Ozcelik, Hilmi
Andrulis, Irene L
Thomassen, Mads
Gerdes, Anne-Marie
Sunde, Lone
Cruger, Dorthe
Birk Jensen, Uffe
Caligo, Maria
Friedman, Eitan
Kaufman, Bella
Laitman, Yael
Milgrom, Roni
Dubrovsky, Maya
Cohen, Shimrit
Borg, Ake
Jernström, Helena
Lindblom, Annika
Rantala, Johanna
Stenmark-Askmalm, Marie
Melin, Beatrice
Nathanson, Kate
Domchek, Susan
Jakubowska, Ania
Lubinski, Jan
Huzarski, Tomasz
Osorio, Ana
Lasa, Adriana
Durán, Mercedes
Tejada, Maria-Isabel
Godino, Javier
Benitez, Javier
Hamann, Ute
Kriege, Mieke
Hoogerbrugge, Nicoline
van der Luijt, Rob B
van Asperen, Christi J
Devilee, Peter
Meijers-Heijboer, E J
Blok, Marinus J
Aalfs, Cora M
Hogervorst, Frans
Rookus, Matti
Cook, Margaret
Oliver, Clare
Frost, Debra
Conroy, Don
Evans, D Gareth
Lalloo, Fiona
Pichert, Gabriella
Davidson, Rosemarie
Cole, Trevor
Cook, Jackie
Paterson, Joan
Hodgson, Shirley
Morrison, Patrick J
Porteous, Mary E
Walker, Lisa
Kennedy, M John
Dorkins, Huw
Peock, Susan
Godwin, Andrew K
Stoppa-Lyonnet, Dominique
de Pauw, Antoine
Mazoyer, Sylvie
Bonadona, Valérie
Lasset, Christine
Dreyfus, Hélène
Leroux, Dominique
Hardouin, Agnès
Berthet, Pascaline
Faivre, Laurence
Loustalot, Catherine
Noguchi, Tetsuro
Sobol, Hagay
Rouleau, Etienne
Nogues, Catherine
Frénay, Marc
Vénat-Bouvet, Laurence
Hopper, John L
Daly, Mary B
Terry, Mary B
John, Esther M
Buys, Saundra S
Yassin, Yosuf
Miron, Alexander
Goldgar, David
Singer, Christian F
Dressler, Anne Catharina
Gschwantler-Kaulich, Daphne
Pfeiler, Georg
Hansen, Thomas V O
Jønson, Lars
Agnarsson, Bjarni A
Kirchhoff, Tomas
Offit, Kenneth
Devlin, Vincent
Dutra-Clarke, Ana
Piedmonte, Marion
Rodriguez, Gustavo C
Wakeley, Katie
Boggess, John F
Basil, Jack
Schwartz, Peter E
Blank, Stephanie V
Toland, Amanda Ewart
Montagna, Marco
Casella, Cinzia
Imyanitov, Evgeny
Tihomirova, Laima
Blanco, Ignacio
Lazaro, Conxi
Ramus, Susan J
Sucheston, Lara
Karlan, Beth Y
Gross, Jenny
Schmutzler, Rita
Wappenschmidt, Barbara
Engel, Christoph
Meindl, Alfons
Lochmann, Magdalena
Arnold, Norbert
Heidemann, Simone
Varon-Mateeva, Raymonda
Niederacher, Dieter
Sutter, Christian
Deissler, Helmut
Gadzicki, Dorothea
Preisler-Adams, Sabine
Kast, Karin
Schönbuchner, Ines
Caldes, Trinidad
de la Hoya, Miguel
Aittomäki, Kristiina
Nevanlinna, Heli
Simard, Jacques
Spurdle, Amanda B
Holland, Helene
Chen, Xiaoqing
Platte, Radka
Chenevix-Trench, Georgia
Easton, Douglas F
Issue Date
2010-12
Metadata
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Cancer Res. 2010, 70(23):9742-54Abstract
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.Description
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http://dx.doi.org/10.1158/0008-5472.CAN-10-1907ae974a485f413a2113503eed53cd6c53
10.1158/0008-5472.CAN-10-1907
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