Abstract
Original language | English |
---|---|
Article number | R33 |
Journal | Breast Cancer Research |
Volume | 14 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2012 |
Access to Document
- 10.1186/bcr3121Licence: CC BY
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In: Breast Cancer Research, Vol. 14, No. 1, R33, 2012.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
AU - Antoniou, Antonis C.
AU - Kuchenbaecker, Karoline B.
AU - Soucy, Penny
AU - Beesley, Jonathan
AU - Chen, Xiaoqing
AU - McGuffog, Lesley
AU - Lee, Andrew
AU - Barrowdale, Daniel
AU - Healey, Sue
AU - Sinilnikova, Olga M.
AU - Caligo, Maria A.
AU - Loman, Niklas
AU - Harbst, Katja
AU - Lindblom, Annika
AU - Arver, Brita
AU - Rosenquist, Richard
AU - Karlsson, Per
AU - Nathanson, Kate
AU - Domchek, Susan
AU - Rebbeck, Tim
AU - Jakubowska, Anna
AU - Lubinski, Jan
AU - Jaworska, Katarzyna
AU - Durda, Katarzyna
AU - Zlowowcka-Perlowska, Elzbieta
AU - Osorio, Ana
AU - Duran, Mercedes
AU - Andres, Raquel
AU - Benitez, Javier
AU - Hamann, Ute
AU - Hogervorst, Frans B.
AU - van Os, Theo A.
AU - Verhoef, Senno
AU - Meijers-Heijboer, Hanne E. J.
AU - Wijnen, Juul
AU - Garcia, Encarna B. Gomez
AU - Ligtenberg, Marjolijn J.
AU - Kriege, Mieke
AU - Collee, Margriet
AU - Ausems, Margreet G. E. M.
AU - Oosterwijk, Jan C.
AU - Peock, Susan
AU - Frost, Debra
AU - Ellis, Steve D.
AU - Platte, Radka
AU - Fineberg, Elena
AU - Evans, D. Gareth
AU - Lalloo, Fiona
AU - Jacobs, Chris
AU - Eeles, Ros
AU - Adlard, Julian
AU - Davidson, Rosemarie
AU - Cole, Trevor
AU - Cook, Jackie
AU - Paterson, Joan
AU - Douglas, Fiona
AU - Brewer, Carole
AU - Hodgson, Shirley
AU - Morrison, Patrick J.
AU - Walker, Lisa
AU - Rogers, Mark T.
AU - Donaldson, Alan
AU - Dorkins, Huw
AU - Godwin, Andrew K.
AU - Bove, Betsy
AU - Stoppa-Lyonnet, Dominique
AU - Houdayer, Claude
AU - Buecher, Bruno
AU - de Pauw, Antoine
AU - Mazoyer, Sylvie
AU - Calender, Alain
AU - Leone, Melanie
AU - Bressac-de Paillerets, Brigitte
AU - Caron, Olivier
AU - Sobol, Hagay
AU - Frenay, Marc
AU - Prieur, Fabienne
AU - Ferrer, Sandra Fert
AU - Mortemousque, Isabelle
AU - Buys, Saundra
AU - Daly, Mary
AU - Miron, Alexander
AU - Terry, Mary Beth
AU - Hopper, John L.
AU - John, Esther M.
AU - Southey, Melissa
AU - Goldgar, David
AU - Singer, Christian F.
AU - Fink-Retter, Anneliese
AU - Tea, Muy-Kheng
AU - Kaulich, Daphne Geschwantler
AU - Hansen, Thomas V. O.
AU - Nielsen, Finn C.
AU - Barkardottir, Rosa B.
AU - Gaudet, Mia
AU - Kirchhoff, Tomas
AU - Joseph, Vijai
AU - Dutra-Clarke, Ana
AU - Offit, Kenneth
AU - Piedmonte, Marion
AU - Kirk, Judy
AU - Cohn, David
AU - Hurteau, Jean
AU - Byron, John
AU - Fiorica, James
AU - Toland, Amanda E.
AU - Montagna, Marco
AU - Oliani, Cristina
AU - Imyanitov, Evgeny
AU - Isaacs, Claudine
AU - Tihomirova, Laima
AU - Blanco, Ignacio
AU - Lazaro, Conxi
AU - Teule, Alex
AU - Del Valle, J.
AU - Gayther, Simon A.
AU - Odunsi, Kunle
AU - Gross, Jenny
AU - Karlan, Beth Y.
AU - Olah, Edith
AU - Teo, Soo-Hwang
AU - Ganz, Patricia A.
AU - Beattie, Mary S.
AU - Dorfling, Cecelia M.
AU - van Rensburg, Elizabeth Jansen
AU - Diez, Orland
AU - Kwong, Ava
AU - Schmutzler, Rita K.
AU - Wappenschmidt, Barbara
AU - Engel, Christoph
AU - Meindl, Alfons
AU - Ditsch, Nina
AU - Arnold, Norbert
AU - Heidemann, Simone
AU - Niederacher, Dieter
AU - Preisler-Adams, Sabine
AU - Gadzicki, Dorothea
AU - Varon-Mateeva, Raymonda
AU - Deissler, Helmut
AU - Gehrig, Andrea
AU - Sutter, Christian
AU - Kast, Karin
AU - Fiebig, Britta
AU - Schaefer, Dieter
AU - Caldes, Trinidad
AU - de la Hoya, Miguel
AU - Nevanlinna, Heli
AU - Muranen, Taru A.
AU - Lesperance, Bernard
AU - Spurdle, Amanda B.
AU - Neuhausen, Susan L.
AU - Ding, Yuan C.
AU - Wang, Xianshu
AU - Fredericksen, Zachary
AU - Pankratz, Vernon S.
AU - Lindor, Noralane M.
AU - Peterlongo, Paolo
AU - Manoukian, Siranoush
AU - Peissel, Bernard
AU - Zaffaroni, Daniela
AU - Bonanni, Bernardo
AU - Bernard, Loris
AU - Dolcetti, Riccardo
AU - Papi, Laura
AU - Ottini, Laura
AU - Radice, Paolo
AU - Greene, Mark H.
AU - Loud, Jennifer T.
AU - Andrulis, Irene L.
AU - Ozcelik, Hilmi
AU - Mulligan, Anna Marie
AU - Glendon, Gord
AU - Thomassen, Mads
AU - Gerdes, Anne-Marie
AU - Jensen, Uffe B.
AU - Skytte, Anne-Bine
AU - Kruse, Torben A.
AU - Chenevix-Trench, Georgia
AU - Couch, Fergus J.
AU - Simard, Jacques
AU - Easton, Douglas F.
PY - 2012
Y1 - 2012
N2 - Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10(-4)). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10(-5), P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df P = 0.007; rs1292011 2df P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10(-5)) and there was marginal evidence of association with ER- negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
AB - Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10(-4)). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10(-5), P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df P = 0.007; rs1292011 2df P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10(-5)) and there was marginal evidence of association with ER- negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
U2 - 10.1186/bcr3121
DO - 10.1186/bcr3121
M3 - Article
C2 - 22348646
SN - 1465-5411
VL - 14
JO - Breast Cancer Research
JF - Breast Cancer Research
IS - 1
M1 - R33
ER -