Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Antoniou, Antonis C., Kuchenbaecker, Karoline B., Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M., Caligo, Maria A., Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Zlowowcka-Perlowska, Elzbieta, Osorio, Ana, Duran, Mercedes, Andres, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B., van Os, Theo A., Verhoef, Senno, Meijers-Heijboer, Hanne E. J., Wijnen, Juul, Garcia, Encarna B. Gomez, Ligtenberg, Marjolijn J., Kriege, Mieke, Collee, J. Margriet, Ausems, Margreet G. E. M., Oosterwijk, Jan C., Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J., Walker, Lisa, Rogers, Mark T., Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K., Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Leone, Melanie, Bressac-de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra Fert, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary Beth, Hopper, John L., John, Esther M., Southey, Melissa, Goldgar, David, Singer, Christian F., Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne Geschwantler, Hansen, Thomas V. O., Nielsen, Finn C., Barkardottir, Rosa B., Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, Piedmonte, Marion, Kirk, Judy, Cohn, David, Hurteau, Jean, Byron, John, Fiorica, James, Toland, Amanda E., Montagna, Marco, Oliani, Cristina, Imyanitov, Evgeny, Isaacs, Claudine, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Teule, Alex, Del Valle, J., Gayther, Simon A., Odunsi, Kunle, Gross, Jenny, Karlan, Beth Y., Olah, Edith, Teo, Soo-Hwang, Ganz, Patricia A., Beattie, Mary S., Dorfling, Cecelia M., van Rensburg, Elizabeth Jansen, Diez, Orland, Kwong, Ava, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schaefer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Muranen, Taru A., Lesperance, Bernard, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan C., Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S., Lindor, Noralane M., Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H., Loud, Jennifer T., Andrulis, Irene L., Ozcelik, Hilmi, Mulligan, Anna Marie, Glendon, Gord, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe B., Skytte, Anne-Bine, Kruse, Torben A., Chenevix-Trench, Georgia, Couch, Fergus J., Simard, Jacques and Easton, Douglas F. (2012) Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Research, 14 . doi:10.1186/bcr3121


Author Antoniou, Antonis C.
Kuchenbaecker, Karoline B.
Soucy, Penny
Beesley, Jonathan
Chen, Xiaoqing
McGuffog, Lesley
Lee, Andrew
Barrowdale, Daniel
Healey, Sue
Sinilnikova, Olga M.
Caligo, Maria A.
Loman, Niklas
Harbst, Katja
Lindblom, Annika
Arver, Brita
Rosenquist, Richard
Karlsson, Per
Nathanson, Kate
Domchek, Susan
Rebbeck, Tim
Jakubowska, Anna
Lubinski, Jan
Jaworska, Katarzyna
Durda, Katarzyna
Zlowowcka-Perlowska, Elzbieta
Osorio, Ana
Duran, Mercedes
Andres, Raquel
Benitez, Javier
Hamann, Ute
Hogervorst, Frans B.
van Os, Theo A.
Verhoef, Senno
Meijers-Heijboer, Hanne E. J.
Wijnen, Juul
Garcia, Encarna B. Gomez
Ligtenberg, Marjolijn J.
Kriege, Mieke
Collee, J. Margriet
Ausems, Margreet G. E. M.
Oosterwijk, Jan C.
Peock, Susan
Frost, Debra
Ellis, Steve D.
Platte, Radka
Fineberg, Elena
Evans, D. Gareth
Lalloo, Fiona
Jacobs, Chris
Eeles, Ros
Adlard, Julian
Davidson, Rosemarie
Cole, Trevor
Cook, Jackie
Paterson, Joan
Douglas, Fiona
Brewer, Carole
Hodgson, Shirley
Morrison, Patrick J.
Walker, Lisa
Rogers, Mark T.
Donaldson, Alan
Dorkins, Huw
Godwin, Andrew K.
Bove, Betsy
Stoppa-Lyonnet, Dominique
Houdayer, Claude
Buecher, Bruno
de Pauw, Antoine
Mazoyer, Sylvie
Calender, Alain
Leone, Melanie
Bressac-de Paillerets, Brigitte
Caron, Olivier
Sobol, Hagay
Frenay, Marc
Prieur, Fabienne
Ferrer, Sandra Fert
Mortemousque, Isabelle
Buys, Saundra
Daly, Mary
Miron, Alexander
Terry, Mary Beth
Hopper, John L.
John, Esther M.
Southey, Melissa
Goldgar, David
Singer, Christian F.
Fink-Retter, Anneliese
Tea, Muy-Kheng
Kaulich, Daphne Geschwantler
Hansen, Thomas V. O.
Nielsen, Finn C.
Barkardottir, Rosa B.
Gaudet, Mia
Kirchhoff, Tomas
Joseph, Vijai
Dutra-Clarke, Ana
Offit, Kenneth
Piedmonte, Marion
Kirk, Judy
Cohn, David
Hurteau, Jean
Byron, John
Fiorica, James
Toland, Amanda E.
Montagna, Marco
Oliani, Cristina
Imyanitov, Evgeny
Isaacs, Claudine
Tihomirova, Laima
Blanco, Ignacio
Lazaro, Conxi
Teule, Alex
Del Valle, J.
Gayther, Simon A.
Odunsi, Kunle
Gross, Jenny
Karlan, Beth Y.
Olah, Edith
Teo, Soo-Hwang
Ganz, Patricia A.
Beattie, Mary S.
Dorfling, Cecelia M.
van Rensburg, Elizabeth Jansen
Diez, Orland
Kwong, Ava
Schmutzler, Rita K.
Wappenschmidt, Barbara
Engel, Christoph
Meindl, Alfons
Ditsch, Nina
Arnold, Norbert
Heidemann, Simone
Niederacher, Dieter
Preisler-Adams, Sabine
Gadzicki, Dorothea
Varon-Mateeva, Raymonda
Deissler, Helmut
Gehrig, Andrea
Sutter, Christian
Kast, Karin
Fiebig, Britta
Schaefer, Dieter
Caldes, Trinidad
de la Hoya, Miguel
Nevanlinna, Heli
Muranen, Taru A.
Lesperance, Bernard
Spurdle, Amanda B.
Neuhausen, Susan L.
Ding, Yuan C.
Wang, Xianshu
Fredericksen, Zachary
Pankratz, Vernon S.
Lindor, Noralane M.
Peterlongo, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Bonanni, Bernardo
Bernard, Loris
Dolcetti, Riccardo
Papi, Laura
Ottini, Laura
Radice, Paolo
Greene, Mark H.
Loud, Jennifer T.
Andrulis, Irene L.
Ozcelik, Hilmi
Mulligan, Anna Marie
Glendon, Gord
Thomassen, Mads
Gerdes, Anne-Marie
Jensen, Uffe B.
Skytte, Anne-Bine
Kruse, Torben A.
Chenevix-Trench, Georgia
Couch, Fergus J.
Simard, Jacques
Easton, Douglas F.
Title Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
Formatted title
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
Journal name Breast Cancer Research   Check publisher's open access policy
ISSN 1465-5411
1465-542X
Publication date 2012-02-20
Year available 2012
Sub-type Article (original research)
DOI 10.1186/bcr3121
Open Access Status DOI
Volume 14
Total pages 18
Place of publication London, United Kingdom
Publisher Current Medicine Group
Language eng
Formatted abstract
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 × 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 × 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 × 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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