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

Antonis Antoniou 1, * Karoline Kuchenbaecker 1 Penny Soucy 2 Jonathan Beesley 3 Xiaoqing Chen 3 Lesley Mcguffog 1 Andrew Lee 1 Daniel Barrowdale 1 Sue Healey 3 Olga Sinilnikova 4, 5 Maria Caligo 6 Niklas Loman 7 Katja Harbst 7 Annika Lindblom 8 Brita Arver 9 Richard Rosenquist 10 Per Karlsson 11 Kate Nathanson 12 Susan Domchek 12 Tim Rebbeck 12 Anna Jakubowska 13 Jan Lubinski 13 Katarzyna Jaworska 13 Katarzyna Durda 13, 14 Elżbieta Złowowcka-Perłowska 13 Ana Osorio 15, 16 Mercedes Durán 17 Raquel Andrés 18 Javier Benítez 15, 16 Ute Hamann 19 Frans Hogervorst 20 Theo Van Os 21 Senno Verhoef 22 Hanne Meijers-Heijboer 23 Juul Wijnen 24 Encarna Gómez Garcia 24 Marjolijn Ligtenberg 25 Mieke Kriege 26 J Margriet Collée 26 Margreet Ausems 27 Jan Oosterwijk 28 Susan Peock 1 Debra Frost 1 Steve Ellis 1 Radka Platte 1 Elena Fineberg 1 D Gareth Evans 29 Fiona Lalloo 29 Chris Jacobs 30 Ros Eeles 31 Julian Adlard 32 Rosemarie Davidson 33 Trevor Cole 34 Jackie Cook 35 Joan Paterson 36 Fiona Douglas 37 Carole Brewer 38 Shirley Hodgson 39 Patrick Morrison 40, 41 Lisa Walker 42 Mark Rogers 43 Alan Donaldson 44 Huw Dorkins 45 Andrew Godwin 46 Betsy Bove 47 Dominique Stoppa-Lyonnet 48, 49 Claude Houdayer 48 Bruno Buecher 48 Antoine De Pauw 48 Sylvie Mazoyer 5 Alain Calender 4 Mélanie Léoné 4 Brigitte Bressac- de Paillerets 50, 51 Olivier Caron 52 Hagay Sobol 53, 54 Marc Frenay 55 Fabienne Prieur 56 Sandra Ferrer 57 Isabelle Mortemousque 58 Saundra Buys 59 Mary Daly 60 Alexander Miron 61, 62 Mary Terry 63 John Hopper 64 Esther John 65 Melissa Southey 66 David Goldgar 67 Christian Singer 68 Anneliese Fink-Retter 68 Muy-Kheng Tea 68 Daphne Kaulich 68 Thomas Hansen 69 Finn Nielsen 69 Rosa Barkardottir 70 Mia Gaudet 71 Tomas Kirchhoff 72 Vijai Joseph 73 Ana Dutra-Clarke 73 Kenneth Offit 73 Marion Piedmonte 74 Judy Kirk 75 David Cohn 76 Jean Hurteau 77 John Byron 78 James Fiorica 79 Amanda Toland 80 Marco Montagna 81 Cristina Oliani 82 Evgeny Imyanitov 83 Claudine Isaacs 84 Laima Tihomirova 85 Ignacio Blanco 86 Conxi Lazaro 87 Alex Teulé 86 J Del Valle 87 Simon Gayther 88 Kunle Odunsi 89 Jenny Gross 90 Beth Karlan 90 Edith Olah 91 Soo-Hwang Teo 92 Patricia Ganz 93 Mary Beattie 94, 95 Cecelia Dorfling 96 Elizabeth Van Rensburg 96 Orland Diez 97 Ava Kwong 98 Rita Schmutzler 99 Barbara Wappenschmidt 99 Christoph Engel 100 Alfons Meindl 101 Nina Ditsch 102 Norbert Arnold 103 Simone Heidemann 104 Dieter Niederacher 105 Sabine Preisler-Adams 106 Dorothea Gadzicki 107 Raymonda Varon-Mateeva 108 Helmut Deissler 109 Andrea Gehrig 110 Christian Sutter 111 Karin Kast 112 Britta Fiebig 113 Dieter Schäfer 114, 115 Trinidad Caldes 115 Miguel De La Hoya 115 Heli Nevanlinna 116 Taru Muranen 116 Bernard Lespérance 117 Amanda Spurdle 3 Susan Neuhausen 118 Yuan Ding 118 Xianshu Wang 119 Zachary Fredericksen 120 Vernon Pankratz 120 Noralane Lindor 121 Paolo Peterlongo 122 Siranoush Manoukian 123 Bernard Peissel 123 Daniela Zaffaroni 123 Bernardo Bonanni 124 Loris Bernard 125 Riccardo Dolcetti 126 Laura Papi 127 Laura Ottini 128 Paolo Radice 122 Mark Greene 129 Jennifer Loud 129 Irene Andrulis 130, 131 Hilmi Ozcelik 131, 130 Anna Mulligan 132, 133 Gord Glendon 134 Mads Thomassen 135 Anne-Marie Gerdes 136 Uffe Jensen 137 Anne-Bine Skytte 135 Torben Kruse 135 Georgia Chenevix-Trench 3 Fergus Couch 138 Jacques Simard 2 Douglas Easton 1
* Auteur correspondant
Abstract : 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 12599 BRCA1 and 7132 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:0.81-0.94, P-trend=3x10^-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR=0.82, 95%CI:0.74-0.90, P-trend=3.1x10^-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: 0.74-0.90, P-trend=4x10^-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR=0.78, 95%CI:0.62-1.00, 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.
Type de document :
Article dans une revue
Breast Cancer Research, BioMed Central, 2012, 14 (1), pp.R33. 〈10.1186/bcr3121〉
Liste complète des métadonnées

Littérature citée [47 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-00681614
Contributeur : Ed. Bmc <>
Soumis le : jeudi 22 mars 2012 - 01:08:00
Dernière modification le : mardi 13 février 2018 - 16:40:02
Document(s) archivé(s) le : lundi 26 novembre 2012 - 11:50:56

Fichiers

bcr3121.pdf
Fichiers éditeurs autorisés sur une archive ouverte

Identifiants

Collections

Citation

Antonis Antoniou, Karoline Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, et al.. 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, BioMed Central, 2012, 14 (1), pp.R33. 〈10.1186/bcr3121〉. 〈inserm-00681614〉

Partager

Métriques

Consultations de la notice

1687

Téléchargements de fichiers

762