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

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.

SUBMITTER: Antoniou AC 

PROVIDER: S-EPMC3496151 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature

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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 AC   Kuchenbaecker Karoline B KB   Soucy Penny P   Beesley Jonathan J   Chen Xiaoqing X   McGuffog Lesley L   Lee Andrew A   Barrowdale Daniel D   Healey Sue S   Sinilnikova Olga M OM   Caligo Maria A MA   Loman Niklas N   Harbst Katja K   Lindblom Annika A   Arver Brita B   Rosenquist Richard R   Karlsson Per P   Nathanson Kate K   Domchek Susan S   Rebbeck Tim T   Jakubowska Anna A   Lubinski Jan J   Jaworska Katarzyna K   Durda Katarzyna K   Złowowcka-Perłowska Elżbieta E   Osorio Ana A   Durán Mercedes M   Andrés Raquel R   Benítez Javier J   Hamann Ute U   Hogervorst Frans B FB   van Os Theo A TA   Verhoef Senno S   Meijers-Heijboer Hanne E J HE   Wijnen Juul J   Gómez Garcia Encarna B EB   Ligtenberg Marjolijn J MJ   Kriege Mieke M   Collée J Margriet JM   Ausems Margreet G E M MG   Oosterwijk Jan C JC   Peock Susan S   Frost Debra D   Ellis Steve D SD   Platte Radka R   Fineberg Elena E   Evans D Gareth DG   Lalloo Fiona F   Jacobs Chris C   Eeles Ros R   Adlard Julian J   Davidson Rosemarie R   Cole Trevor T   Cook Jackie J   Paterson Joan J   Douglas Fiona F   Brewer Carole C   Hodgson Shirley S   Morrison Patrick J PJ   Walker Lisa L   Rogers Mark T MT   Donaldson Alan A   Dorkins Huw H   Godwin Andrew K AK   Bove Betsy B   Stoppa-Lyonnet Dominique D   Houdayer Claude C   Buecher Bruno B   de Pauw Antoine A   Mazoyer Sylvie S   Calender Alain A   Léoné Mélanie M   Bressac-de Paillerets Brigitte B   Caron Olivier O   Sobol Hagay H   Frenay Marc M   Prieur Fabienne F   Ferrer Sandra U SU   Mortemousque Isabelle I   Buys Saundra S   Daly Mary M   Miron Alexander A   Terry Mary U MU   Hopper John L JL   John Esther M EM   Southey Melissa M   Goldgar David D   Singer Christian F CF   Fink-Retter Anneliese A   Tea Muy-Kheng MK   Kaulich Daphne U DU   Hansen Thomas V TV   Nielsen Finn C FC   Barkardottir Rosa B RB   Gaudet Mia M   Kirchhoff Tomas T   Joseph Vijai V   Dutra-Clarke Ana A   Offit Kenneth K   Piedmonte Marion M   Kirk Judy J   Cohn David D   Hurteau Jean J   Byron John J   Fiorica James J   Toland Amanda E AE   Montagna Marco M   Oliani Cristina C   Imyanitov Evgeny E   Isaacs Claudine C   Tihomirova Laima L   Blanco Ignacio I   Lazaro Conxi C   Teulé Alex A   Valle J Del JD   Gayther Simon A SA   Odunsi Kunle K   Gross Jenny J   Karlan Beth Y BY   Olah Edith E   Teo Soo-Hwang SH   Ganz Patricia A PA   Beattie Mary S MS   Dorfling Cecelia M CM   van Rensburg Elizabeth U EU   Diez Orland O   Kwong Ava A   Schmutzler Rita K RK   Wappenschmidt Barbara B   Engel Christoph C   Meindl Alfons A   Ditsch Nina N   Arnold Norbert N   Heidemann Simone S   Niederacher Dieter D   Preisler-Adams Sabine S   Gadzicki Dorothea D   Varon-Mateeva Raymonda R   Deissler Helmut H   Gehrig Andrea A   Sutter Christian C   Kast Karin K   Fiebig Britta B   Schäfer Dieter D   Caldes Trinidad T   de la Hoya Miguel M   Nevanlinna Heli H   Muranen Taru A TA   Lespérance Bernard B   Spurdle Amanda B AB   Neuhausen Susan L SL   Ding Yuan C YC   Wang Xianshu X   Fredericksen Zachary Z   Pankratz Vernon S VS   Lindor Noralane M NM   Peterlongo Paolo P   Manoukian Siranoush S   Peissel Bernard B   Zaffaroni Daniela D   Bonanni Bernardo B   Bernard Loris L   Dolcetti Riccardo R   Papi Laura L   Ottini Laura L   Radice Paolo P   Greene Mark H MH   Loud Jennifer T JT   Andrulis Irene L IL   Ozcelik Hilmi H   Mulligan Anna U AU   Glendon Gord G   Thomassen Mads M   Gerdes Anne-Marie AM   Jensen Uffe B UB   Skytte Anne-Bine AB   Kruse Torben A TA   Chenevix-Trench Georgia G   Couch Fergus J FJ   Simard Jacques J   Easton Douglas F DF  

Breast cancer research : BCR 20120220 1

<h4>Introduction</h4>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).<h4>Methods</h4>To evaluate whether these sing  ...[more]

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