Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue Human Molecular Genetics Année : 2011

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antonis C Antoniou , Christiana Kartsonaki (1) , Olga M Sinilnikova , Penny Soucy (2) , Lesley Mcguffog (1) , Sue Healey (3) , Andrew Lee (1) , Paolo Peterlongo (4) , Siranoush Manoukian (5) , Bernard Peissel (5) , Daniela Zaffaroni (5) , Elisa Cattaneo (6) , Monica Barile (7) , Valeria Pensotti (8) , Barbara Pasini (9) , Riccardo Dolcetti (10) , Giuseppe Giannini (11) , Anna Laura Putignano (12) , Liliana Varesco (13) , Paolo Radice (4) , Phuong L Mai , Mark H Greene (14) , Irene L Andrulis , Gord Glendon (15) , Hilmi Ozcelik (16, 17) , Mads Thomassen (18) , Anne-Marie Gerdes (19) , Torben A Kruse , Uffe Birk Jensen , Dorthe G Crüger , Maria A Caligo , Yael Laitman (20) , Roni Milgrom (20) , Bella Kaufman (20) , Shani Paluch-Shimon , Eitan Friedman (20, 21) , Niklas Loman (22) , Katja Harbst (22) , Annika Lindblom (23) , Brita Arver (24) , Hans Ehrencrona (25) , Beatrice Melin (26) , Katherine L Nathanson (27) , Susan M Domchek , Timothy Rebbeck (28) , Ania Jakubowska , Jan Lubinski (29) , Jacek Gronwald (30) , Tomasz Huzarski (31) , Tomasz Byrski (30) , Cezary Cybulski (29) , Bohdan Gorski (29) , Ana Osorio (32, 33) , Teresa Ramón y Cajal (34) , Florentia Fostira , Raquel Andrés (35) , Javier Benitez (32, 33) , Ute Hamann (36) , Frans B Hogervorst , Matti A Rookus , Maartje J Hooning , Marcel R Nelen , Rob B van Der Luijt , Theo a M van Os , Christi J van Asperen , Peter Devilee (37) , Hanne E J Meijers-Heijboer , Encarna B Gómez Garcia , Susan Peock (1) , Margaret Cook (1) , Debra Frost (1) , Radka Platte (1) , Jean Leyland , D Gareth Evans (38) , Fiona Lalloo (38) , Ros Eeles (39) , Louise Izatt (40) , Julian Adlard (41) , Rosemarie Davidson (42) , Diana Eccles (43) , Kai-Ren Ong (44) , Jackie Cook (45) , Fiona Douglas (46) , Joan Paterson (47) , M John Kennedy , Zosia Miedzybrodzka , Andrew Godwin (48) , Dominique Stoppa-Lyonnet (49, 50) , Bruno Buecher (49) , Muriel Belotti , Carole Tirapo (51) , Sylvie Mazoyer (52) , Laure Barjhoux (52, 53) , Christine Lasset (54, 55) , Dominique Leroux (56) , Laurence Faivre (57) , Myriam Bronner , Fabienne Prieur (58) , Catherine Nogues (59) , Etienne Rouleau (60) , Pascal Pujol (61, 62) , Isabelle Coupier (62, 63) , Marc Frénay (64) , John L Hopper , Mary B Daly , Mary B Terry , Esther M John , Saundra S Buys , Yosuf Yassin , Alexander Miron (65, 66) , David Goldgar (67) , Christian F Singer , Muy-Kheng Tea (68) , Georg Pfeiler (69) , Anne Catharina Dressler , Thomas V O Hansen , Lars Jønson (70) , Bent Ejlertsen (71) , Rosa Bjork Barkardottir (72) , Tomas Kirchhoff (73) , Kenneth Offit (74) , Marion Piedmonte (75) , Gustavo Rodriguez , Laurie Small , John Boggess , Stephanie Blank , Jack Basil , Masoud Azodi , Amanda Ewart Toland , Marco Montagna (76) , Silvia Tognazzo (77) , Simona Agata , Evgeny Imyanitov (78) , Ramunas Janavicius (79, 80) , Conxi Lazaro (81) , Ignacio Blanco (82) , Paul D P Pharoah , Lara Sucheston , Beth y Karlan , Christine S Walsh , Edith Olah (83) , Aniko Bozsik , Soo-Hwang Teo (84) , Joyce L Seldon , Mary S Beattie , Elizabeth J van Rensburg , Michelle D Sluiter , Orland Diez (85) , Rita K Schmutzler , Barbara Wappenschmidt (86) , Christoph Engel (87) , Alfons Meindl (88) , Ina Ruehl (89) , Raymonda Varon-Mateeva (90) , Karin Kast (91) , Helmut Deissler (92) , Dieter Niederacher (93) , Norbert Arnold (94) , Dorothea Gadzicki (95) , Ines Schönbuchner (96) , Trinidad Caldes (97) , Miguel de La Hoya (97) , Heli Nevanlinna (98) , Kristiina Aittomäki (99) , Martine Dumont (2) , Jocelyne Chiquette , Marc Tischkowitz (100) , Xiaoqing Chen (3) , Jonathan Beesley (3) , Amanda B Spurdle , Susan L Neuhausen , Yuan Chun Ding , Zachary Fredericksen (101) , Xianshu Wang (102) , Vernon S Pankratz , Fergus Couch (103) , Jacques Simard (2) , Douglas F Easton (104, 105) , Georgia Chenevix-Trench (3) , Non Renseigné
1 Centre for Cancer Genetic Epidemiology
2 Cancer Genomics Laboratory
3 Queensland Institute of Medical Research
4 Unit of Molecular Bases of Genetic Risk and Genetic Testing
5 Unit of Medical Genetics
6 Unit of Medical Genetics
7 Division of Cancer Prevention and Genetics
8 Consortium for Genomics Technology (Cogentech)
9 Department of Genetics, Biology and Biochemistry
10 CRO - Centro di Riferimento Oncologico
11 Department of Experimental Medicine
12 Medical Genetics Unit, Department of Clinical Physiopathology
13 Unit of Hereditary Cancers
14 Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics
15 Ontario Cancer Genetics Network
16 Departments of Molecular Genetics and Laboratory Medicine and Pathobiology
17 Samuel Lunenfeld Research Institute
18 Department of Clinical Genetics
19 Department of Clinical Genetics [Copenhagen]
20 The Susanne Levy Gertner Oncogenetics Unit
21 Sackler Faculty of Medicine
22 Department of Oncology
23 Department of Clinical Genetics
24 Department of Oncology
25 Department of Genetics and Pathology
26 Department of Radiation Sciences and Oncology
27 Depts of Medicine and Biostatistics and Epidemology
28 Center for Clinical Epidemiology and Biostatistics
29 Department of Genetics and Pathology
30 Department of Genetics and Pathology, International Hereditary Cancer Center
31 Department of Genetics and Pathology
32 Human Genetics Group
33 Biomedical Research Centre Network for Rare Diseases
34 Department of Medical Oncology
35 Medical Oncology Division
36 Molecular Genetics of Breast Cancer
37 Department of Genetic Epidemiology
38 Genetic Medicine
39 Oncogenetics Team
40 Clinical Genetics
41 Yorkshire Regional Genetics Service
42 Ferguson-Smith Centre for Clinical Genetics
43 Wessex Clinical Genetics Service
44 West Midlands Regional Genetics Service
45 Sheffield Clinical Genetics Service
46 Institute of Human Genetics
47 Department of Clinical Genetics
48 Department of Pathology and Laboratory Medicine
49 Service de Génétique Oncologique
50 U830 - Unité de génétique et biologie des cancers
51 génétique
52 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
53 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents
54 Biostatistiques santé
55 Equipe de prévention et épidémiologie génétique
56 Service d'onco-hématologie et génétique
57 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
58 Service de Génétique Clinique Chromosomique et Moléculaire
59 Hôpital René Huguenin [Saint-Cloud]
60 CRLCC René Huguenin - CRLCC René Huguenin
61 IRCM - U896 Inserm - UM1 - Institut de recherche en cancérologie de Montpellier
62 Service de génétique médicale [Montpellier]
63 Unité d'Oncogénétique
64 Consultation d'oncogénétique
65 Department of Cancer Biology
66 Department of Surgery
67 Department of Dermatology
68 Dept of OB/GYN and Comprehensive Cancer Center
69 Division of Special Gynecology
70 Department of Clinical Biochemistry [Rigshospitalet]
71 Department of Oncology
72 Department of Pathology
73 Department of Environmental Medicine
74 Clinical Genetics Service
75 Statistical and Data Center
76 Immunology and Molecular Oncology Unit
77 Immunology and Molecular Oncology Unit
78 Laboratory of Molecular Oncology
79 Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion Medicine Center
80 State Research Institute Innovative Medicine Center
81 Molecular Diagnostic Unit
82 Genetic Counselling Unit
83 Department of Molecular Genetics
84 Cancer Research Initiatives Foundation
85 Oncogenetics Laboratory
86 Department of Gynaecology and Obstetrics
87 IMISE - Institute for Medical Informatics, Statistics and Epidemiology [Leipzig]
88 Department of Gynaecology and Obstetrics
89 Department of Gynaecology and Obstetrics
90 Institute of Human Genetics
91 Department of Gynaecology and Obstetrics
92 Department of Gynaecology and Obstetrics
93 Department of Gynaecology and Obstetrics
94 Department of Gynaecology and Obstetrics
95 Institute of Cell and Molecular Pathology
96 Institute of Human Genetics
97 Molecular Oncology Laboratory
98 Department of Obstetrics and Gynecology
99 Department of Clinical Genetics
100 Department of Genetics
101 Department of Medical Genetics
102 Department of Laboratory Medicine and Pathology
103 Department of Laboratory Medicine and Pathology
104 Cancer Research U.K. Genetic Epidemiology Unit
105 Genetic Epidemiology Unit, Department of Public Health and Primary Care
Antonis C Antoniou
  • Fonction : Auteur
Olga M Sinilnikova
  • Fonction : Auteur
Phuong L Mai
  • Fonction : Auteur
Irene L Andrulis
  • Fonction : Auteur
Torben A Kruse
  • Fonction : Auteur
Uffe Birk Jensen
  • Fonction : Auteur
Dorthe G Crüger
  • Fonction : Auteur
Maria A Caligo
  • Fonction : Auteur
Shani Paluch-Shimon
  • Fonction : Auteur
Susan M Domchek
  • Fonction : Auteur
Ania Jakubowska
  • Fonction : Auteur
Florentia Fostira
  • Fonction : Auteur
Frans B Hogervorst
  • Fonction : Auteur
Matti A Rookus
  • Fonction : Auteur
Maartje J Hooning
  • Fonction : Auteur
Marcel R Nelen
  • Fonction : Auteur
Rob B van Der Luijt
  • Fonction : Auteur
Theo a M van Os
  • Fonction : Auteur
Christi J van Asperen
  • Fonction : Auteur
Peter Devilee
Hanne E J Meijers-Heijboer
  • Fonction : Auteur
Encarna B Gómez Garcia
  • Fonction : Auteur
Jean Leyland
  • Fonction : Auteur
D Gareth Evans
  • Fonction : Auteur
Fiona Lalloo
  • Fonction : Auteur
Ros Eeles
  • Fonction : Auteur
Louise Izatt
  • Fonction : Auteur
M John Kennedy
  • Fonction : Auteur
Zosia Miedzybrodzka
  • Fonction : Auteur
Muriel Belotti
  • Fonction : Auteur
Carole Tirapo
  • Fonction : Auteur
Myriam Bronner
  • Fonction : Auteur
Etienne Rouleau
John L Hopper
  • Fonction : Auteur
Mary B Daly
  • Fonction : Auteur
Mary B Terry
  • Fonction : Auteur
Esther M John
  • Fonction : Auteur
Saundra S Buys
  • Fonction : Auteur
Yosuf Yassin
  • Fonction : Auteur
Christian F Singer
  • Fonction : Auteur
Anne Catharina Dressler
  • Fonction : Auteur
Thomas V O Hansen
  • Fonction : Auteur
Gustavo Rodriguez
  • Fonction : Auteur
Laurie Small
  • Fonction : Auteur
John Boggess
  • Fonction : Auteur
Stephanie Blank
  • Fonction : Auteur
Jack Basil
  • Fonction : Auteur
Masoud Azodi
  • Fonction : Auteur
Amanda Ewart Toland
  • Fonction : Auteur
Simona Agata
  • Fonction : Auteur
Paul D P Pharoah
  • Fonction : Auteur
Lara Sucheston
  • Fonction : Auteur
Beth y Karlan
  • Fonction : Auteur
Christine S Walsh
  • Fonction : Auteur
Aniko Bozsik
  • Fonction : Auteur
Joyce L Seldon
  • Fonction : Auteur
Mary S Beattie
  • Fonction : Auteur
Elizabeth J van Rensburg
  • Fonction : Auteur
Michelle D Sluiter
  • Fonction : Auteur
Rita K Schmutzler
  • Fonction : Auteur
Jocelyne Chiquette
  • Fonction : Auteur
Amanda B Spurdle
  • Fonction : Auteur
Susan L Neuhausen
  • Fonction : Auteur
Yuan Chun Ding
  • Fonction : Auteur
Vernon S Pankratz
  • Fonction : Auteur
Jacques Simard
Non Renseigné
  • Fonction : Auteur

Résumé

Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.

Domaines

Cancer

Dates et versions

hal-00771696 , version 1 (09-01-2013)

Identifiants

Citer

Antonis C Antoniou, Christiana Kartsonaki, Olga M Sinilnikova, Penny Soucy, Lesley Mcguffog, et al.. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.. Human Molecular Genetics, 2011, 20 (16), pp.3304-21. ⟨10.1093/hmg/ddr226⟩. ⟨hal-00771696⟩
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