Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Anna Mulligan 1, 2 Fergus Couch 3 Daniel Barrowdale 4 Susan Domchek 5 Diana Eccles 6 Heli Nevanlinna 7 Susan Ramus 8 Mark Robson 9 Mark Sherman 10 Amanda Spurdle 11 Barbara Wappenschmidt 12 Andrew Lee 4 Lesley Mcguffog 4 Sue Healey 11 Olga Sinilnikova 13, 14 Ramunas Janavicius 15, 16 Thomas Hansen 17 Finn Nielsen 17 Bent Ejlertsen 18 Ana Osorio 19 Iván Muñoz-Repeto 19 Mercedes Durán 20 Javier Godino 21 Maroulio Pertesi 22 Javier Benítez 19 Paolo Peterlongo 23, 24 Siranoush Manoukian 25 Bernard Peissel 25 Daniela Zaffaroni 25 Elisa Cattaneo 25 Bernardo Bonanni 26 Alessandra Viel 27 Barbara Pasini 28 Laura Papi 29 Laura Ottini 30 Antonella Savarese 31 Loris Bernard 32 Paolo Radice 23 Ute Hamann 33 Martijn Verheus 34 Hanne Meijers-Heijboer 35 Juul Wijnen 36 Encarna Gómez García 37 Marcel Nelen 38 C Marleen Kets 38 Caroline Seynaeve 39 Madeleine Tilanus-Linthorst 40 Rob Van Der Luijt 41 Theo Os 42 Matti Rookus 34 Debra Frost 4 J Louise Jones 43 D Gareth Evans 44 Fiona Lalloo 44 Ros Eeles 45 Louise Izatt 46 Julian Adlard 47 Rosemarie Davidson 48 Jackie Cook 49 Alan Donaldson 50 Huw Dorkins 51 Helen Gregory 52 Jacqueline Eason 53 Catherine Houghton 54 Julian Barwell 55 Lucy Side 56 Emma Mccann 57 Alex Murray 57 Susan Peock 4 Andrew Godwin 58 Rita Schmutzler 12 Kerstin Rhiem 12 Christoph Engel 59 Alfons Meindl 60 Ina Ruehl 61 Norbert Arnold 62 Dieter Niederacher 63 Christian Sutter 64 Helmut Deissler 65 Dorothea Gadzicki 66 Karin Kast 67 Sabine Preisler-Adams 68 Raymonda Varon-Mateeva 69 Ines Schoenbuchner 70 Britta Fiebig 71 Wolfram Heinritz 71 Dieter Schäfer 72 Heidrun Gevensleben 73 Virginie Caux-Moncoutier 74 Marion Fassy-Colcombet 74 François Cornelis 75, 76, 77 Sylvie Mazoyer 14 Mélanie Léoné 13 Nadia Boutry-Kryza 13 Agnès Hardouin 78 Pascaline Berthet 78 Danièle Muller 79 Jean-Pierre Fricker 79 Isabelle Mortemousque 80 Pascal Pujol 81 Isabelle Coupier 81 Marine Lebrun 82 Caroline Kientz 82 Michel Longy 83 Nicolas Sevenet 83 Dominique Stoppa-Lyonnet 74, 84 Claudine Isaacs 85 Trinidad Caldes 86 Miguel De La Hoya 86 Tuomas Heikkinen 7 Kristiina Aittomäki 87 Ignacio Blanco 88 Conxi Lazaro 88 Rosa Barkardottir 89, 90 Penny Soucy 91 Martine Dumont 91 Jacques Simard 91, 92 Marco Montagna 93 Silvia Tognazzo 93 Emma D'Andrea 94 Stephen Fox 95 Max Yan 96 Tim Rebbeck 97 Olufunmilayo Olopade 98 Jeffrey Weitzel 99 Henry Lynch 100 Patricia Ganz 101 Gail Tomlinson 102, 103 Xianshu Wang 3 Zachary Fredericksen 104 Vernon Pankratz 104 Noralane Lindor 105 Csilla Szabo 106 Kenneth Offit 9 Rita Sakr 9 Mia Gaudet 107 Jasmine Bhatia 9 Noah Kauff 9 Christian Singer 108 Muy-Kheng Tea 104 Daphne Gschwantler-Kaulich 104 Anneliese Fink-Retter 104 Phuong Mai 10 Mark Greene 104 Evgeny Imyanitov 109 Frances O'Malley 2, 1 Hilmi Ozcelik 2, 110 Gordon Glendon 111 Amanda Toland 112 Anne-Marie Gerdes 113 Mads Thomassen 114 Torben Kruse 104 Uffe Jensen 115 Anne-Bine Skytte 116 Maria Caligo 117 Maria Soller 118 Karin Henriksson 119 Von Anna Wachenfeldt 120 Brita Arver 104 Marie Stenmark-Askmalm 121 Per Karlsson 122 Yuan Ding 123 Susan Neuhausen 104 Mary Beattie 124 Paul Pharoah 125 Kirsten Moysich 126 Katherine Nathanson 5 Beth Karlan 127 Jenny Gross 104 Esther John 128 Mary Daly 129 Saundra Buys 130 Melissa Southey 131 John Hopper 132 Mary Terry 133 Wendy Chung 104 Alexander Miron 134 David Goldgar 135 Georgia Chenevix-Trench 11 Douglas Easton 4 Irene Andrulis 2, 110 Antonis Antoniou 4, *
* Auteur correspondant
Abstract : ABSTRACT: INTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. CONCLUSIONS: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
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Article dans une revue
Breast Cancer Research, BioMed Central, 2011, 13 (6), pp.R110. 〈10.1186/bcr3052〉
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Anna Mulligan, Fergus Couch, Daniel Barrowdale, Susan Domchek, Diana Eccles, et al.. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.. Breast Cancer Research, BioMed Central, 2011, 13 (6), pp.R110. 〈10.1186/bcr3052〉. 〈inserm-00670601〉

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