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
creator: Antoniou, Antonis C.
creator: Kuchenbaecker, Karoline B.
creator: Soucy, Penny
creator: Beesley, Jonathan
creator: Chen, Xiaoqing
creator: McGuffog, Lesley
creator: Lee, Andrew
creator: Barrowdale, Daniel
creator: Healey, Sue
creator: Sinilnikova, Olga M.
creator: Caligo, Maria A.
creator: Loman, Niklas
creator: Harbst, Katja
creator: Lindblom, Annika
creator: Arver, Brita
creator: Rosenquist, Richard
creator: Karlsson, Per
creator: Nathanson, Kate
creator: Domchek, Susan
creator: Rebbeck, Tim
creator: Jakubowska, Anna
creator: Lubinski, Jan
creator: Jaworska, Katarzyna
creator: Durda, Katarzyna
creator: Złowowcka-Perłowska, Elżbieta
creator: Osorio, Ana
creator: Durán, Mercedes
creator: Andrés, Raquel
creator: Benítez, Javier
creator: Hamann, Ute
creator: Hogervorst, Frans B.
creator: van Os, Theo A.
creator: Verhoef, Senno
creator: Meijers-Heijboer, Hanne EJ.
creator: Wijnen, Juul
creator: Gómez Garcia, Encarna B.
creator: Ligtenberg, Marjolijn J.
creator: Kriege, Mieke
creator: Collée, J Margriet
creator: Ausems, Margreet GEM
creator: Oosterwijk, Jan C.
creator: Peock, Susan
creator: Frost, Debra
creator: Ellis, Steve D.
creator: Platte, Radka
creator: Fineberg, Elena
creator: Evans, D. Gareth
creator: Lalloo, Fiona
creator: Jacobs, Chris
creator: Eeles, Ros
creator: Adlard, Julian
creator: Davidson, Rosemarie
creator: Cole, Trevor
creator: Cook, Jackie
creator: Paterson, Joan
creator: Douglas, Fiona
creator: Brewer, Carole
creator: Hodgson, Shirley
creator: Morrison, Patrick J.
creator: Walker, Lisa
creator: Rogers, Mark T.
creator: Donaldson, Alan
creator: Dorkins, Huw
creator: Godwin, Andrew K.
creator: Bove, Betsy
creator: Stoppa-Lyonnet, Dominique
creator: Houdayer, Claude
creator: Buecher, Bruno
creator: de Pauw, Antoine
creator: Mazoyer, Sylvie
creator: Calender, Alain
creator: Léoné, Mélanie
creator: Bressac- de Paillerets, Brigitte
creator: Caron, Olivier
creator: Sobol, Hagay
creator: Frenay, Marc
creator: Prieur, Fabienne
creator: Ferrer, Sandra Fert
creator: Mortemousque, Isabelle
creator: Buys, Saundra
creator: Daly, Mary
creator: Miron, Alexander
creator: Terry, Mary Beth
creator: Hopper, John L.
creator: John, Esther M.
creator: Southey, Melissa
creator: Goldgar, David
creator: Singer, Christian F.
creator: Fink-Retter, Anneliese
creator: Tea, Muy-Kheng
creator: Geschwantler Kaulich, Daphne
creator: Hansen, Thomas VO
creator: Nielsen, Finn C.
creator: Barkardottir, Rosa B.
creator: Gaudet, Mia
creator: Kirchhoff, Tomas
creator: Joseph, Vijai
creator: Dutra-Clarke, Ana
creator: Offit, Kenneth
creator: Piedmonte, Marion
creator: Kirk, Judy
creator: Cohn, David
creator: Hurteau, Jean
creator: Byron, John
creator: Fiorica, James
creator: Toland, Amanda E.
creator: Montagna, Marco
creator: Oliani, Cristina
creator: Imyanitov, Evgeny
creator: Isaacs, Claudine
creator: Tihomirova, Laima
creator: Blanco, Ignacio
creator: Lazaro, Conxi
creator: Teulé, Alex
creator: Del Valle, J.
creator: Gayther, Simon A
creator: Odunsi, Kunle
creator: Gross, Jenny
creator: Karlan, Beth Y
creator: Olah, Edith
creator: Teo, Soo-Hwang
creator: Ganz, Patricia A.
creator: Beattie, Mary S.
creator: Dorfling, Cecelia M.
creator: Jansen van Rensburg, Elizabeth
creator: Diez, Orland
creator: Kwong, Ava
creator: Schmutzler, Rita K.
creator: Wappenschmidt, Barbara
creator: Engel, Christoph
creator: Meindl, Alfons
creator: Ditsch, Nina
creator: Arnold, Norbert
creator: Heidemann, Simone
creator: Niederacher, Dieter
creator: Preisler-Adams, Sabine
creator: Gadzicki, Dorothea
creator: Varon-Mateeva, Raymonda
creator: Deissler, Helmut
creator: Gehrig, Andrea
creator: Sutter, Christian
creator: Kast, Karin
creator: Fiebig, Britta
creator: Schäfer, Dieter
creator: Caldes, Trinidad
creator: de la Hoya, Miguel
creator: Nevanlinna, Heli
creator: Muranen, Taru A.
creator: Lespérance, Bernard
creator: Spurdle, Amanda B.
creator: Neuhausen, Susan L.
creator: Ding, Yuan C.
creator: Wang, Xianshu
creator: Fredericksen, Zachary
creator: Pankratz, Vernon S.
creator: Lindor, Noralane M.
creator: Peterlongo, Paolo
creator: Manoukian, Siranoush
creator: Peissel, Bernard
creator: Zaffaroni, Daniela
creator: Bonanni, Bernardo
creator: Bernard, Loris
creator: Dolcetti, Riccardo
creator: Papi, Laura
creator: Ottini, Laura
creator: Radice, Paolo
creator: Greene, Mark H.
creator: Loud, Jennifer T.
creator: Andrulis, Irene L.
creator: Ozcelik, Hilmi
creator: Mulligan, Anna Marie
creator: Glendon, Gord
creator: Thomassen, Mads
creator: Gerdes, Anne-Marie
creator: Jensen, Uffe B.
creator: Skytte, Anne-Bine
creator: Kruse, Torben A.
creator: Chenevix-Trench, Georgia
creator: Couch, Fergus J.
creator: Simard, Jacques
creator: Easton, Douglas F.
subject: ddc-610
subject: 610 Medical sciences Medicine
description: 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.
publisher: BioMed Central
date: 2012
type: Article
type: info:eu-repo/semantics/article
type: NonPeerReviewed
format: application/pdf
identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/20078/1/13058_2011_Article_2930.pdf
identifier: DOI:
identifier: urn:nbn:de:bsz:16-heidok-200786
identifier:   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 ; Złowowcka-Perłowska, Elżbieta ; Osorio, Ana ; Durán, Mercedes ; Andrés, Raquel ; Benítez, Javier ; Hamann, Ute ; Hogervorst, Frans B. ; van Os, Theo A. ; Verhoef, Senno ; Meijers-Heijboer, Hanne EJ. ; Wijnen, Juul ; Gómez Garcia, Encarna B. ; Ligtenberg, Marjolijn J. ; Kriege, Mieke ; Collée, J Margriet ; Ausems, Margreet GEM ; 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 ; Léoné, Mélanie ; 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 ; Geschwantler Kaulich, Daphne ; Hansen, Thomas VO ; 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 ; Teulé, 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. ; Jansen van Rensburg, Elizabeth ; 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 ; Schäfer, Dieter ; Caldes, Trinidad ; de la Hoya, Miguel ; Nevanlinna, Heli ; Muranen, Taru A. ; Lespérance, 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.  (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 (R33).  pp. 1-18.  ISSN 1465-542X     
relation: https://archiv.ub.uni-heidelberg.de/volltextserver/20078/
rights: info:eu-repo/semantics/openAccess
rights: Please see front page of the work (Sorry, Dublin Core plugin does not recognise license id)
language: eng