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
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,
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)
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Mark Rogers
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,
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)
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Olivier Caron
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,
Hagay Sobol
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Marc Frenay
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Fabienne Prieur
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Sandra Fert Ferrer
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,
Isabelle Mortemousque
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,
Saundra Buys
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,
Mary Daly
(60)
,
Alexander Miron
(61, 62)
,
Mary Beth Terry
(63)
,
John Hopper
(64)
,
Esther John
(65)
,
Melissa Southey
(66)
,
David Goldgar
(67)
,
Christian Singer
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,
Anneliese Fink-Retter
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Muy-Kheng Tea
(68)
,
Daphne Geschwantler Kaulich
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,
Thomas Hansen
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,
Finn Nielsen
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Rosa Barkardottir
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Mia Gaudet
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Tomas Kirchhoff
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Vijai Joseph
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Ana Dutra-Clarke
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Kenneth Offit
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Marion Piedmonte
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David Cohn
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Evgeny Imyanitov
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Claudine Isaacs
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Laima Tihomirova
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Ignacio Blanco
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Conxi Lazaro
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Alex Teulé
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J Del Valle
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Simon Gayther
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Kunle Odunsi
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Jenny Gross
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,
Beth Karlan
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Edith Olah
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,
Soo-Hwang Teo
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,
Patricia Ganz
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Mary Beattie
(94, 95)
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Elizabeth Jansen van Rensburg
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Orland Diez
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Ava Kwong
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Christoph Engel
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Alfons Meindl
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Nina Ditsch
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Norbert Arnold
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Simone Heidemann
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Dieter Niederacher
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Sabine Preisler-Adams
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Dorothea Gadzicki
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Raymonda Varon-Mateeva
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Helmut Deissler
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Andrea Gehrig
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Christian Sutter
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Karin Kast
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Britta Fiebig
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Dieter Schäfer
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Trinidad Caldes
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Miguel de La Hoya
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Heli Nevanlinna
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Taru Muranen
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Bernard Lespérance
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Amanda Spurdle
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Susan Neuhausen
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Yuan Ding
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Xianshu Wang
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Zachary Fredericksen
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Vernon Pankratz
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Noralane Lindor
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Paolo Peterlongo
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Siranoush Manoukian
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Bernard Peissel
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Daniela Zaffaroni
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Bernardo Bonanni
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Loris Bernard
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Riccardo Dolcetti
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Laura Papi
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Laura Ottini
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Paolo Radice
(122)
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Mark Greene
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Jennifer Loud
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Irene Andrulis
(130, 131)
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Hilmi Ozcelik
(131, 130)
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Anna Marie Mulligan
(132, 133)
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Gord Glendon
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Mads Thomassen
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Anne-Marie Gerdes
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Uffe Jensen
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Anne-Bine Skytte
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Torben Kruse
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Georgia Chenevix-Trench
(3)
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Fergus Couch
(138)
,
Jacques Simard
(2)
,
Douglas Easton
(1)
1
Centre for Cancer Genetic Epidemiology
2 Cancer Genomics Laboratory
3 Genetics and Population Health Division
4 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents
5 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
6 Section of Genetic Oncology
7 Department of Oncology
8 Department of Clinical Genetics
9 Department of Oncology
10 Department of Genetics and Pathology
11 Department of Oncology
12 Abramson Cancer Center
13 Department of Genetics and Pathology
14 Postgraduate School of Molecular Medicine
15 Human Genetics Group
16 Biomedical Research Centre Network for Rare Diseases
17 Institute of Biology and Molecular Genetics
18 Medical Oncology Division
19 Molecular Genetics of Breast Cancer
20 Family Cancer Clinic
21 Department of Clinical Genetics
22 Department of Clinical Genetics
23 Department of Clinical Genetics
24 Department of Clinical Genetics and GROM
25 Department of Human Genetics
26 Department of Clinical Genetics
27 Department of Clinical Molecular Genetics
28 Department of Genetics
29 Genetic Medicine
30 Clinical Genetics
31 Oncogenetics Team
32 Yorkshire Regional Genetics Service
33 Ferguson-Smith Centre for Clinical Genetics
34 West Midlands Regional Genetics Service
35 Sheffield Clinical Genetics Service
36 Department of Clinical Genetics
37 Institute of Human Genetics
38 Department of Clinical Genetics
39 Medical Genetics Unit
40 Northern Ireland Regional Genetics Centre
41 Department of Medical Genetics
42 Oxford Regional Genetics Service
43 All Wales Medical Genetics Services
44 Clinical Genetics Department
45 North West Thames Regional Genetics Service
46 Department of Pathology and Laboratory Medicine
47 Clinical Molecular Genetics Laboratory
48 Service de Génétique Oncologique
49 U830 - Unité de génétique et biologie des cancers
50 Service de génétique
51 U946 - Variabilité Génétique et Maladies Humaines
52 Consultation de génétique
53 Hôpitaux Sud - Hôpital Sainte-Marguerite [CHU - APHM]
54 Service d'Oncologie Génétique, de Prévention et Dépistage
55 UNICANCER/CAL - Centre de Lutte contre le Cancer Antoine Lacassagne [Nice]
56 Service de Génétique Clinique Chromosomique et Moléculaire
57 Laboratoire de Génétique Chromosomique
58 Service de génétique [Tours]
59 Department of Internal Medicine
60 Division of Population Science
61 Department of Cancer Biology
62 Department of Surgery
63 Department of Epidemiology
64 Centre for Molecular , Environmental, Genetic and Analytic (MEGA) Epidemiology
65 Department of Epidemiology
66 entre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology
67 Department of Dermatology
68 Dept of OB/GYN and Comprehensive Cancer Center
69 Center for Genomic Medicine
70 Department of Pathology
71 Epidemiology Research Program
72 Department of Environmental Medicine
73 Clinical Genetics Service
74 Statistical and Data Center
75 Australia New Zealand (ANZGOG)
76 OSU - The Ohio State University [Columbus]
77 Evanston CCOP - NorthShore University Health System; University of Chicago
78 Southern Pines Women's Health Center
79 Sarasota Memorial Healthcare
80 Department of Molecular Virology, Immunology and Medical Genetics [Colombus]
81 Immunology and Molecular Oncology Unit
82 U.O.C. di Oncologia
83 Laboratory of Molecular Oncology
84 Lombardi Comprehensive Cancer Center
85 Latvian Biomedical Research and Study Centre [Rīga]
86 Genetic Counselling Unit
87 Molecular Diagnostic Unit
88 Department of Preventive Medicine
89 Department of Gynecologic Oncology
90 Women's Cancer Program
91 Department of Molecular Genetics
92 Cancer Research Initiatives Foundation
93 Jonsson Comprehensive Cancer Center at UCLA
94 UCSF Cancer Risk Program
95 Departments of Medicine, Epidemiology, and Biostatistics
96 Cancer Genetics Laboratory
97 Oncogenetics Laboratory
98 The Hong Kong Hereditary Breast Cancer Family Registry
99 Department of Gynaecology and Obstetrics
100 IMISE - Institute for Medical Informatics, Statistics and Epidemiology [Leipzig]
101 Department of Gynaecology and Obstetrics
102 Department of Gynaecology and Obstetrics
103 Department of Gynaecology and Obstetrics
104 Institute of Human Genetics
105 Department of Gynaecology and Obstetrics
106 Institute of Human Genetics
107 Institute of Cell and Molecular Pathology
108 Institute of Human Genetics
109 Department of Gynaecology and Obstetrics
110 Department of Medical Genetics
111 Institute of Human Genetics
112 Department of Gynaecology and Obstetrics
113 Institute of Human Genetics
114 Institute of Human Genetics
115 Molecular Oncology Laboratory
116 Department of Obstetrics and Gynecology
117 Hemato-oncology service
118 Department of Population Sciences
119 Department of Laboratory Medicine and Pathology
120 Department of Medical Genetics
121 Department of Medical Genetics
122 Unit of Molecular Bases of Genetic Risk and Genetic Testing
123 Unit of Medical Genetics
124 Division of Cancer Prevention and Genetics
125 Department of Experimental Oncology
126 CRO - Centro di Riferimento Oncologico
127 Medical Genetics Unit
128 Department of Molecular Medicine
129 Clinical Genetics Branch
130 Departments of Molecular Genetics and Laboratory Medicine and Pathobiology
131 Samuel Lunenfeld Research Institute
132 Department of Laboratory Medicine and Pathobiology
133 Department of Laboratory Medicine
134 Ontario Cancer Genetics Network
135 Department of Clinical Genetics
136 Department of Clinical Genetics [Copenhagen]
137 Department of Clinical Genetics
138 Department of Laboratory Medicine and Pathology and Health Sciences Research
2 Cancer Genomics Laboratory
3 Genetics and Population Health Division
4 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents
5 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
6 Section of Genetic Oncology
7 Department of Oncology
8 Department of Clinical Genetics
9 Department of Oncology
10 Department of Genetics and Pathology
11 Department of Oncology
12 Abramson Cancer Center
13 Department of Genetics and Pathology
14 Postgraduate School of Molecular Medicine
15 Human Genetics Group
16 Biomedical Research Centre Network for Rare Diseases
17 Institute of Biology and Molecular Genetics
18 Medical Oncology Division
19 Molecular Genetics of Breast Cancer
20 Family Cancer Clinic
21 Department of Clinical Genetics
22 Department of Clinical Genetics
23 Department of Clinical Genetics
24 Department of Clinical Genetics and GROM
25 Department of Human Genetics
26 Department of Clinical Genetics
27 Department of Clinical Molecular Genetics
28 Department of Genetics
29 Genetic Medicine
30 Clinical Genetics
31 Oncogenetics Team
32 Yorkshire Regional Genetics Service
33 Ferguson-Smith Centre for Clinical Genetics
34 West Midlands Regional Genetics Service
35 Sheffield Clinical Genetics Service
36 Department of Clinical Genetics
37 Institute of Human Genetics
38 Department of Clinical Genetics
39 Medical Genetics Unit
40 Northern Ireland Regional Genetics Centre
41 Department of Medical Genetics
42 Oxford Regional Genetics Service
43 All Wales Medical Genetics Services
44 Clinical Genetics Department
45 North West Thames Regional Genetics Service
46 Department of Pathology and Laboratory Medicine
47 Clinical Molecular Genetics Laboratory
48 Service de Génétique Oncologique
49 U830 - Unité de génétique et biologie des cancers
50 Service de génétique
51 U946 - Variabilité Génétique et Maladies Humaines
52 Consultation de génétique
53 Hôpitaux Sud - Hôpital Sainte-Marguerite [CHU - APHM]
54 Service d'Oncologie Génétique, de Prévention et Dépistage
55 UNICANCER/CAL - Centre de Lutte contre le Cancer Antoine Lacassagne [Nice]
56 Service de Génétique Clinique Chromosomique et Moléculaire
57 Laboratoire de Génétique Chromosomique
58 Service de génétique [Tours]
59 Department of Internal Medicine
60 Division of Population Science
61 Department of Cancer Biology
62 Department of Surgery
63 Department of Epidemiology
64 Centre for Molecular , Environmental, Genetic and Analytic (MEGA) Epidemiology
65 Department of Epidemiology
66 entre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology
67 Department of Dermatology
68 Dept of OB/GYN and Comprehensive Cancer Center
69 Center for Genomic Medicine
70 Department of Pathology
71 Epidemiology Research Program
72 Department of Environmental Medicine
73 Clinical Genetics Service
74 Statistical and Data Center
75 Australia New Zealand (ANZGOG)
76 OSU - The Ohio State University [Columbus]
77 Evanston CCOP - NorthShore University Health System; University of Chicago
78 Southern Pines Women's Health Center
79 Sarasota Memorial Healthcare
80 Department of Molecular Virology, Immunology and Medical Genetics [Colombus]
81 Immunology and Molecular Oncology Unit
82 U.O.C. di Oncologia
83 Laboratory of Molecular Oncology
84 Lombardi Comprehensive Cancer Center
85 Latvian Biomedical Research and Study Centre [Rīga]
86 Genetic Counselling Unit
87 Molecular Diagnostic Unit
88 Department of Preventive Medicine
89 Department of Gynecologic Oncology
90 Women's Cancer Program
91 Department of Molecular Genetics
92 Cancer Research Initiatives Foundation
93 Jonsson Comprehensive Cancer Center at UCLA
94 UCSF Cancer Risk Program
95 Departments of Medicine, Epidemiology, and Biostatistics
96 Cancer Genetics Laboratory
97 Oncogenetics Laboratory
98 The Hong Kong Hereditary Breast Cancer Family Registry
99 Department of Gynaecology and Obstetrics
100 IMISE - Institute for Medical Informatics, Statistics and Epidemiology [Leipzig]
101 Department of Gynaecology and Obstetrics
102 Department of Gynaecology and Obstetrics
103 Department of Gynaecology and Obstetrics
104 Institute of Human Genetics
105 Department of Gynaecology and Obstetrics
106 Institute of Human Genetics
107 Institute of Cell and Molecular Pathology
108 Institute of Human Genetics
109 Department of Gynaecology and Obstetrics
110 Department of Medical Genetics
111 Institute of Human Genetics
112 Department of Gynaecology and Obstetrics
113 Institute of Human Genetics
114 Institute of Human Genetics
115 Molecular Oncology Laboratory
116 Department of Obstetrics and Gynecology
117 Hemato-oncology service
118 Department of Population Sciences
119 Department of Laboratory Medicine and Pathology
120 Department of Medical Genetics
121 Department of Medical Genetics
122 Unit of Molecular Bases of Genetic Risk and Genetic Testing
123 Unit of Medical Genetics
124 Division of Cancer Prevention and Genetics
125 Department of Experimental Oncology
126 CRO - Centro di Riferimento Oncologico
127 Medical Genetics Unit
128 Department of Molecular Medicine
129 Clinical Genetics Branch
130 Departments of Molecular Genetics and Laboratory Medicine and Pathobiology
131 Samuel Lunenfeld Research Institute
132 Department of Laboratory Medicine and Pathobiology
133 Department of Laboratory Medicine
134 Ontario Cancer Genetics Network
135 Department of Clinical Genetics
136 Department of Clinical Genetics [Copenhagen]
137 Department of Clinical Genetics
138 Department of Laboratory Medicine and Pathology and Health Sciences Research
Antonis Antoniou
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Résumé
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.
Domaines
Cancer
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