Abstract
Original language | English |
---|---|
Pages (from-to) | 9742-9754 |
Journal | Cancer Research |
Volume | 70 |
Issue number | 23 |
DOIs | |
Publication status | Published - 1 Dec 2010 |
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In: Cancer Research, Vol. 70, No. 23, 01.12.2010, p. 9742-9754.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
AU - Antoniou, Antonis C.
AU - Beesley, Jonathan
AU - McGuffog, Lesley
AU - Sinilnikova, Olga M.
AU - Healey, Sue
AU - Neuhausen, Susan L.
AU - Ding, Yuan Chun
AU - Rebbeck, Timothy R.
AU - Weitzel, Jeffrey N.
AU - Lynch, Henry T.
AU - Isaacs, Claudine
AU - Ganz, Patricia A.
AU - Tomlinson, Gail E.
AU - Olopade, Olufunmilayo I.
AU - Couch, Fergus J.
AU - Wang, Xianshu
AU - Lindor, Noralane M.
AU - Pankratz, Vernon S.
AU - Radice, Paolo
AU - Manoukian, Siranoush
AU - Peissel, Bernard
AU - Zaffaroni, Daniela
AU - Barile, Monica
AU - Viel, Alessandra
AU - Allavena, Anna
AU - Dall'Olio, Valentina
AU - Peterlongo, Paolo
AU - Szabo, Csilla I.
AU - Zikan, Michal
AU - Claes, Kathleen
AU - Poppe, Bruce
AU - Foretova, Lenka
AU - Mai, Phuong L.
AU - Greene, Mark H.
AU - Rennert, Gad
AU - Lejbkowicz, Flavio
AU - Glendon, Gord
AU - Ozcelik, Hilmi
AU - Andrulis, Irene L.
AU - Thomassen, Mads
AU - Gerdes, Anne-Marie
AU - Sunde, Lone
AU - Cruger, Dorthe
AU - Jensen, Uffe Birk
AU - Caligo, Maria A.
AU - Friedman, Eitan
AU - Kaufman, Bella
AU - Laitman, Yael
AU - Milgrom, Roni
AU - Dubrovsky, Maya
AU - Cohen, Shimrit
AU - Borg, Ake
AU - Jernstroem, Helena
AU - Lindblom, Annika
AU - Rantala, Johanna
AU - Stenmark-Askmalm, Marie
AU - Melin, Beatrice
AU - Nathanson, Kate
AU - Domchek, Susan
AU - Jakubowska, Ania
AU - Lubinski, Jan
AU - Huzarski, Tomasz
AU - Osorio, Ana
AU - Lasa, Adriana
AU - Duran, Mercedes
AU - Tejada, Maria-Isabel
AU - Godino, Javier
AU - Benitez, Javier
AU - Hamann, Ute
AU - Kriege, Mieke
AU - Hoogerbrugge, Nicoline
AU - van der Luijt, Rob B.
AU - van Asperen, Christi J.
AU - Devilee, Peter
AU - Meijers-Heijboer, Hanne E. J.
AU - Blok, Marinus J.
AU - Aalfs, Cora M.
AU - Hogervorst, Frans B. L.
AU - Rookus, Matti A.
AU - Cook, Margaret
AU - Oliver, Clare
AU - Frost, Debra
AU - Conroy, Don
AU - Evans, D. Gareth
AU - Lalloo, Fiona
AU - Pichert, Gabriella
AU - Davidson, Rosemarie
AU - Cole, Trevor
AU - Cook, Jackie
AU - Paterson, Joan
AU - Hodgson, Shirley V.
AU - Morrison, Patrick J.
AU - Porteous, Mary E.
AU - Walker, Lisa
AU - Kennedy, M. John
AU - Dorkins, Huw
AU - Peock, Susan
AU - Godwin, Andrew K.
AU - Stoppa-Lyonnet, Dominique
AU - de Pauw, Antoine
AU - Mazoyer, Sylvie
AU - Bonadona, Valerie
AU - Lasset, Christine
AU - Dreyfus, Helene
AU - Leroux, Dominique
AU - Hardouin, Agnes
AU - Berthet, Pascaline
AU - Faivre, Laurence
AU - Loustalot, Catherine
AU - Noguchi, Tetsuro
AU - Sobol, Hagay
AU - Rouleau, Etienne
AU - Nogues, Catherine
AU - Frenay, Marc
AU - Venat-Bouvet, Laurence
AU - Hopper, John L.
AU - Daly, Mary B.
AU - Terry, Mary Beth
AU - John, Esther M.
AU - Buys, Saundra
AU - Yassin, Yosuf
AU - Miron, Alexander
AU - Goldgar, David E.
AU - Singer, Christian F.
AU - Dressler, Anne Catharina
AU - Gschwantler-Kaulich, Daphne
AU - Pfeiler, Georg
AU - Hansen, Thomas V. O.
AU - Jnson, Lars
AU - Agnarsson, Bjarni A.
AU - Kirchhoff, Tomas
AU - Offit, Kenneth
AU - Devlin, Vincent
AU - Dutra-Clarke, Ana
AU - Piedmonte, Marion
AU - Rodriguez, Gustavo C.
AU - Wakeley, Katie
AU - Boggess, John F.
AU - Basil, Jack
AU - Schwartz, Peter E.
AU - Blank, Stephanie V.
AU - Toland, Amanda Ewart
AU - Montagna, Marco
AU - Casella, Cinzia
AU - Imyanitov, Evgeny N.
AU - Tihomirova, Laima
AU - Blanco, Ignacio
AU - Lazaro, Conxi
AU - Ramus, Susan J.
AU - Sucheston, Lara
AU - Karlan, Beth Y.
AU - Gross, Jenny
AU - Schmutzler, Rita
AU - Wappenschmidt, Barbara
AU - Engel, Christoph
AU - Meindl, Alfons
AU - Lochmann, Magdalena
AU - Arnold, Norbert
AU - Heidemann, Simone
AU - Varon-Mateeva, Raymonda
AU - Niederacher, Dieter
AU - Sutter, Christian
AU - Deissler, Helmut
AU - Gadzicki, Dorothea
AU - Preisler-Adams, Sabine
AU - Kast, Karin
AU - Schoenbuchner, Ines
AU - Caldes, Trinidad
AU - De La Hoya, Miguel
AU - Aittomaeki, Kristiina
AU - Nevanlinna, Heli
AU - Simard, Jacques
AU - Spurdle, Amanda B.
AU - Holland, Helene
AU - Chen, Xiaoqing
AU - Platte, Radka
AU - Chenevix-Trench, Georgia
AU - Easton, Douglas F.
PY - 2010/12/1
Y1 - 2010/12/1
N2 - 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.
AB - 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.
U2 - 10.1158/0008-5472.CAN-10-1907
DO - 10.1158/0008-5472.CAN-10-1907
M3 - Article
SN - 0008-5472
VL - 70
SP - 9742
EP - 9754
JO - Cancer Research
JF - Cancer Research
IS - 23
ER -