Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Daniel Barnes
(1)
,
Matti Rookus
(2)
,
Lesley Mcguffog
(1)
,
Goska Leslie
(1)
,
Thea Mooij
(2)
,
Joe Dennis
(1)
,
Nasim Mavaddat
(1)
,
Julian Adlard
(3)
,
Munaza Ahmed
(4)
,
Kristiina Aittomäki
(5)
,
Nadine Andrieu
(6, 7, 8, 9)
,
Irene Andrulis
(10, 11)
,
Norbert Arnold
(12)
,
Banu Arun
(13)
,
Jacopo Azzollini
(14)
,
Judith Balmaña
(15, 16)
,
Rosa Barkardottir
(17, 18)
,
Daniel Barrowdale
(1)
,
Javier Benitez
(19, 20)
,
Pascaline Berthet
(21)
,
Katarzyna Białkowska
(22)
,
Amie Blanco
(23)
,
Marinus Blok
(24)
,
Bernardo Bonanni
(25)
,
Susanne Boonen
(26)
,
Åke Borg
(27)
,
Aniko Bozsik
(28)
,
Angela Bradbury
(29)
,
Paul Brennan
(30)
,
Carole Brewer
(31)
,
Joan Brunet
(32)
,
Saundra Buys
(33)
,
Trinidad Caldés
(34)
,
Maria Caligo
(35)
,
Ian Campbell
(36, 37)
,
Lise Lotte Christensen
(38)
,
Wendy Chung
(39)
,
Kathleen Claes
(40)
,
Chrystelle Colas
(7)
,
Marie-Agnès Collonge-Rame
(41)
,
Jackie Cook
(42)
,
Mary Daly
(43)
,
Rosemarie Davidson
(44)
,
Miguel de La Hoya
(34)
,
Robin de Putter
(40)
,
Capucine Delnatte
(45)
,
Peter Devilee
(46)
,
Orland Diez
(15, 16)
,
Yuan Chun Ding
(47)
,
Susan Domchek
(48)
,
Cecilia Dorfling
(49)
,
Martine Dumont
(50)
,
Ros Eeles
(51)
,
Bent Ejlertsen
(52)
,
Christoph Engel
(53)
,
D Gareth Evans
(54, 55)
,
Laurence Faivre
(56, 57)
,
Lenka Foretova
(58)
,
Florentia Fostira
(59)
,
Michael Friedlander
(60)
,
Eitan Friedman
(61, 62)
,
Debra Frost
(1)
,
Patricia Ganz
(63)
,
Judy Garber
(64)
,
Andrea Gehrig
(65)
,
Anne-Marie Gerdes
(66)
,
Paul Gesta
(67)
,
Sophie Giraud
(68)
,
Gord Glendon
(10)
,
Andrew Godwin
(69)
,
David Goldgar
(33)
,
Anna González-Neira
(20)
,
Mark Greene
(70)
,
Daphne Gschwantler-Kaulich
(71)
,
Eric Hahnen
(72)
,
Ute Hamann
(73)
,
Helen Hanson
(74)
,
Julia Hentschel
(75)
,
Frans Hogervorst
(2)
,
Maartje Hooning
(76)
,
Judit Horvath
(77)
,
Chunling Hu
(78)
,
Peter Hulick
(79, 80)
,
Evgeny Imyanitov
(81)
,
Claudine Isaacs
(82)
,
Louise Izatt
(83)
,
Angel Izquierdo
(32)
,
Anna Jakubowska
(22)
,
Paul James
(37, 84)
,
Ramunas Janavicius
(85, 86)
,
Esther John
(87)
,
Vijai Joseph
(88)
,
Beth Karlan
(23, 89)
,
Karin Kast
(90)
,
Marco Koudijs
(91)
,
Torben Kruse
(92)
,
Ava Kwong
(93, 94, 95)
,
Yael Laitman
(61)
,
Christine Lasset
(96, 97)
,
Conxi Lazaro
(32)
,
Jenny Lester
(98, 89)
,
Fabienne Lesueur
(6, 7, 9, 99)
,
Annelie Liljegren
(100)
,
Jennifer Loud
(70)
,
Jan Lubiński
(22)
,
Phuong Mai
(101)
,
Siranoush Manoukian
(14)
,
Véronique Mari
(102)
,
Noura Mebirouk
(6, 7, 99, 9)
,
Hanne Meijers-Heijboer
(103)
,
Alfons Meindl
(104)
,
Arjen Mensenkamp
(105)
,
Austin Miller
(106)
,
Marco Montagna
(107)
,
Emmanuelle Mouret-Fourme
(7)
,
Semanti Mukherjee
(88)
,
Anna Marie Mulligan
(108, 109)
,
Katherine Nathanson
(110)
,
Susan Neuhausen
(47)
,
Heli Nevanlinna
(5)
,
Dieter Niederacher
(111)
,
Finn Cilius Nielsen
(52)
,
Liene Nikitina-Zake
(112)
,
Catherine C. Nogues
(113, 114)
,
Edith Olah
(28)
,
Olufunmilayo Olopade
(115)
,
Kai-Ren Ong
(116)
,
Aoife O'Shaughnessy-Kirwan
(117)
,
Ana Osorio
(19, 20)
,
Claus-Eric Ott
(118)
,
Laura Papi
(119)
,
Sue Park
(120, 121)
,
Michael Parsons
(122)
,
Inge Sokilde Pedersen
(123)
,
Bernard Peissel
(124)
,
Ana Peixoto
(125)
,
Paolo Peterlongo
(126)
,
Georg Pfeiler
(71)
,
Kelly-Anne Phillips
(127, 37)
,
Karolina Prajzendanc
(22)
,
Miquel Angel Pujana
(128)
,
Paolo Radice
(124)
,
Juliane Ramser
(129)
,
Susan Ramus
(130, 131)
,
Johanna Rantala
(100)
,
Gad Rennert
(132)
,
Harvey Risch
(133)
,
Mark Robson
(88)
,
Karina Rønlund
(134)
,
Ritu Salani
(135)
,
Hélène Schuster
(136, 137, 138)
,
Leigha Senter
(135)
,
Payal Shah
(48)
,
Priyanka Sharma
(139)
,
Lucy Side
(140)
,
Christian Singer
(71)
,
Thomas Slavin
(141)
,
Penny Soucy
(50)
,
Melissa Southey
(142, 37, 143)
,
Amanda Spurdle
(122)
,
Doris Steinemann
(144)
,
Zoe Steinsnyder
(88)
,
Dominique Stoppa-Lyonnet
(7, 145, 146)
,
Christian Sutter
(147)
,
Yen Yen Tan
(71)
,
Manuel Teixeira
(125, 148)
,
Soo Hwang Teo
(149, 150)
,
Darcy Thull
(101)
,
Marc Tischkowitz
(151, 1)
,
Silvia Tognazzo
(107)
,
Amanda Toland
(135)
,
Alison Trainer
(127, 37)
,
Nadine Tung
(152)
,
Klaartje van Engelen
(103)
,
Elizabeth van Rensburg
(49)
,
Ana Vega
(19, 153, 154)
,
Jeroen Vierstraete
(155)
,
Gabriel Wagner
(71)
,
Lisa Walker
(156)
,
Shan Wang-Gohrke
(157)
,
Barbara Wappenschmidt
(158)
,
Jeffrey Weitzel
(141)
,
Siddhartha Yadav
(159)
,
Xin Yang
(1)
,
Drakoulis Yannoukakos
(59)
,
Dario Zimbalatti
(124)
,
Kenneth Offit
(88)
,
Mads Thomassen
(92)
,
Fergus Couch
(159)
,
Rita Schmutzler
(158)
,
Jacques Simard
(50)
,
Douglas Easton
(1)
,
Georgia Chenevix-Trench
(122)
,
Antonis Antoniou
(1)
1
CAM -
University of Cambridge [UK]
2 NKI - Netherlands Cancer Institute
3 Chapel Allerton Hospital
4 GOSH - Great Ormond Street Hospital for Children [London]
5 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
6 Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
7 Institut Curie [Paris]
8 Mines Paris - PSL (École nationale supérieure des mines de Paris)
9 PSL - Université Paris Sciences et Lettres
10 MSH - Mount Sinai Hospital [Toronto, Canada]
11 University of Toronto - University of Toronto
12 CAU - Christian-Albrechts-Universität zu Kiel = Christian-Albrechts University of Kiel = Université Christian-Albrechts de Kiel
13 The University of Texas M.D. Anderson Cancer Center [Houston]
14 Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan]
15 VHIO - Vall d'Hebron Institute of Oncology [Barcelone]
16 Vall d'Hebron University Hospital [Barcelona]
17 Landspitali National University Hospital of Iceland
18 University of Iceland [Reykjavik]
19 CIBER de Enfermedades Raras (CIBERER)
20 CNIO - Spanish National Cancer Research Center
21 UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
22 PUM - Pomeranian Medical University [Szczecin]
23 UC - University of California
24 MUMC - Maastricht University Medical Centre
25 EIO - European Institute of Oncology IRCCS [Milan, Italy]
26 Zealand University Hospital [Roskilde, Denmark]
27 Skane University Hospital [Lund]
28 National Institute of Oncology [Budapest, Hungary]
29 Abramson Cancer Center [philadelphia]
30 Institute of Genetic Medicine [Newcastle]
31 Royal Devon & Exeter Hospital, Exeter, UK
32 ICO - Catalan Institute of Oncology = Instituto Catalán de Oncología
33 Huntsman Cancer Institute [Salt Lake City]
34 IdISSC - Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain]
35 Azienda Ospedaliera Universitaria Pisana
36 Peter MacCallum Cancer Centre [Melbourne, Australie]
37 University of Melbourne
38 Aarhus University Hospital
39 Columbia University [New York]
40 Ghent University Hospital
41 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
42 Sheffield Children's NHS Foundation Trust
43 Fox Chase Cancer Center
44 Queen Elizabeth University Hospital (Glasgow)
45 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
46 LUMC - Leiden University Medical Center
47 Beckman Research Institute of the City of Hope
48 Abramson Cancer Center
49 University of Pretoria [South Africa]
50 Centre Hospitalier Universitaire de Québec Research Center [Canada]
51 Royal Marsden NHS Foundation Trust
52 Copenhagen University Hospital
53 Leipzig University / Universität Leipzig
54 University of Manchester [Manchester]
55 MAHSC - Manchester Academic Health Science Centre
56 UNICANCER/CRLCC-CGFL - Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon]
57 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
58 MMCI - Masaryk Memorial Cancer Institute
59 INRASTES - Institute of Nuclear and Radiological Sciences and Technology, Energy and Safety
60 NHMRC Clinical Trials Centre [Camperdown NSW 2050, Australie]
61 Chaim Sheba Medical Center
62 TAU - Tel Aviv University
63 Jonsson Comprehensive Cancer Center
64 Dana-Farber Cancer Institute [Boston]
65 JMU - Julius-Maximilians-Universität Würzburg = University of Würzburg [Würsburg, Germany]
66 Rigshospitalet [Copenhagen]
67 CH Georges Renon Niort - Centre Hospitalier Georges Renon [Niort]
68 HCL - Hospices Civils de Lyon
69 University of Kansas [Kansas City]
70 NCI-NIH - National Cancer Institute [Bethesda]
71 Medizinische Universität Wien = Medical University of Vienna
72 Universität zu Köln = University of Cologne
73 DKFZ - German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg]
74 Lancashire NHS Foundation Trust
75 University Hospital Leipzig = Universitätsklinikum Leipzig
76 Department of Medical Oncology, Family Cancer Clinic
77 WWU - Westfälische Wilhelms-Universität Münster = University of Münster
78 Mayo Clinic
79 NorthShore University HealthSystem [Evanston, IL, USA]
80 The University of Chicago Medicine [Chicago]
81 N. N. Petrov Institute of Oncology
82 Georgetown Lombardi Comprehensive Cancer Center
83 Guy's and St Thomas' NHS Foundation Trust
84 Peter MacCallum Cancer Center, East Melbourne
85 Vilnius University [Vilnius]
86 The State Scientific Research Institute Nature Research Centre, Vilnius, Lithuania
87 Stanford University
88 Memorial Sloane Kettering Cancer Center [New York]
89 Cedars-Sinai Medical Center
90 TU Dresden - Technische Universität Dresden = Dresden University of Technology
91 UMCU - University Medical Center [Utrecht]
92 Odense University Hospital [Odense, Denmark]
93 The Hong Kong Hereditary Breast Cancer Family Registry
94 HKU - The University of Hong Kong
95 HKSH - Hong Kong Sanatorium and Hospital [Hong Kong]
96 Equipe de prévention et épidémiologie génétique
97 LBBE - Laboratoire de Biométrie et Biologie Evolutive - UMR 5558
98 David Geffen School of Medicine [Los Angeles]
99 Fondation MINES ParisTech
100 Karolinska Institutet [Stockholm]
101 University of Pittsburgh School of Medicine
102 UNICANCER/CAL - Centre de Lutte contre le Cancer Antoine Lacassagne [Nice]
103 Amsterdam UMC - Amsterdam University Medical Centers
104 TUM - Technische Universität Munchen - Technical University Munich - Université Technique de Munich
105 Radboud University Medical Center [Nijmegen]
106 RPCI - Roswell Park Cancer Institute [Buffalo]
107 Veneto Institute of Oncology IOV-IRCCS [Padua, Italy]
108 University of Toronto
109 University Health Network [Toronto, ON, Canada]
110 University of Pennsylvania
111 University Hospital Düsseldorf
112 Latvian Biomedical Research and Study Centre [Rīga]
113 SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD - Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale
114 IPC - Institut Paoli-Calmettes
115 University of Chicago
116 Birmingham Women's and Children's NHS Foundation Trust
117 CUH - Cambridge University Hospitals - NHS
118 Charité Campus Virchow-Klinikum (CVK)
119 UniFI - Università degli Studi di Firenze = University of Florence = Université de Florence
120 SNUCM - Seoul National University College of Medicine [Séoul, Corée du Sud]
121 SNU - Seoul National University [Seoul]
122 QIMR Berghofer Medical Research Institute
123 AAU - Aalborg University [Denmark]
124 IRCCS Istituto Nazionale dei Tumori [Milano]
125 IPO Porto - Instituto Português de Oncologia do Porto / Portuguese Oncology Institute of Porto
126 IFOM - IFOM, Istituto FIRC di Oncologia Molecolare
127 Peter MacCallum Cancer Center
128 IDIBELL - Institut d'Investigació Biomèdica de Bellvitge = Bellvitge Biomedical Research Institute
129 MRI TUM - Klinikum rechts der Isar
130 UNSW - University of New South Wales [Sydney]
131 Garvan Institute of medical research
132 Technion Faculty of Medicine [Haifa, Israel]
133 YSM - Yale School of Medicine [New Haven, Connecticut]
134 Vejle Hospital [Danemark]
135 OSU - The Ohio State University [Columbus]
136 CRLCC Paul Strauss - Centre Paul Strauss
137 ICANS - Institut de Cancérologie de Strasbourg Europe
138 IRM - Immuno-Rhumatologie Moléculaire
139 University of Kansas Medical Center [Kansas City, KS, USA]
140 Princess Anne Hospital
141 City of Hope Comprehensive Cancer Center [Duarte]
142 Monash University [Clayton]
143 Cancer Council Victoria
144 MHH - Medizinische Hochschule Hannover = Hannover Medical School
145 U830 - Unité de génétique et biologie des cancers
146 UPD5 - Université Paris Descartes - Paris 5
147 Heidelberg University Hospital [Heidelberg]
148 Institute of Biomedical Sciences Abel Salazar - ICBAS [Porto, Portugal]
149 Malaysia and University Malaya Cancer Research Institute
150 Faculty of Medicine, University of Malaya [Kuala Lumpur, Malaisie]
151 McGill University = Université McGill [Montréal, Canada]
152 BIDMC - Beth Israel Deaconess Medical Center [Boston]
153 Grupo de Medicina Xenómica - Fundación Pública Galega Medicina Xenómica - SERGAS [Santiago de Compostela, Spain]
154 Instituto de Investigaciones Sanitarias
155 UGENT - Universiteit Gent = Ghent University = Université de Gand
156 Oxford University Hospitals NHS Trust
157 Universitätsklinikum Ulm - University Hospital of Ulm
158 University Hospital of Cologne [Cologne]
159 Mayo Clinic [Rochester]
2 NKI - Netherlands Cancer Institute
3 Chapel Allerton Hospital
4 GOSH - Great Ormond Street Hospital for Children [London]
5 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
6 Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
7 Institut Curie [Paris]
8 Mines Paris - PSL (École nationale supérieure des mines de Paris)
9 PSL - Université Paris Sciences et Lettres
10 MSH - Mount Sinai Hospital [Toronto, Canada]
11 University of Toronto - University of Toronto
12 CAU - Christian-Albrechts-Universität zu Kiel = Christian-Albrechts University of Kiel = Université Christian-Albrechts de Kiel
13 The University of Texas M.D. Anderson Cancer Center [Houston]
14 Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan]
15 VHIO - Vall d'Hebron Institute of Oncology [Barcelone]
16 Vall d'Hebron University Hospital [Barcelona]
17 Landspitali National University Hospital of Iceland
18 University of Iceland [Reykjavik]
19 CIBER de Enfermedades Raras (CIBERER)
20 CNIO - Spanish National Cancer Research Center
21 UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
22 PUM - Pomeranian Medical University [Szczecin]
23 UC - University of California
24 MUMC - Maastricht University Medical Centre
25 EIO - European Institute of Oncology IRCCS [Milan, Italy]
26 Zealand University Hospital [Roskilde, Denmark]
27 Skane University Hospital [Lund]
28 National Institute of Oncology [Budapest, Hungary]
29 Abramson Cancer Center [philadelphia]
30 Institute of Genetic Medicine [Newcastle]
31 Royal Devon & Exeter Hospital, Exeter, UK
32 ICO - Catalan Institute of Oncology = Instituto Catalán de Oncología
33 Huntsman Cancer Institute [Salt Lake City]
34 IdISSC - Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain]
35 Azienda Ospedaliera Universitaria Pisana
36 Peter MacCallum Cancer Centre [Melbourne, Australie]
37 University of Melbourne
38 Aarhus University Hospital
39 Columbia University [New York]
40 Ghent University Hospital
41 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
42 Sheffield Children's NHS Foundation Trust
43 Fox Chase Cancer Center
44 Queen Elizabeth University Hospital (Glasgow)
45 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
46 LUMC - Leiden University Medical Center
47 Beckman Research Institute of the City of Hope
48 Abramson Cancer Center
49 University of Pretoria [South Africa]
50 Centre Hospitalier Universitaire de Québec Research Center [Canada]
51 Royal Marsden NHS Foundation Trust
52 Copenhagen University Hospital
53 Leipzig University / Universität Leipzig
54 University of Manchester [Manchester]
55 MAHSC - Manchester Academic Health Science Centre
56 UNICANCER/CRLCC-CGFL - Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon]
57 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
58 MMCI - Masaryk Memorial Cancer Institute
59 INRASTES - Institute of Nuclear and Radiological Sciences and Technology, Energy and Safety
60 NHMRC Clinical Trials Centre [Camperdown NSW 2050, Australie]
61 Chaim Sheba Medical Center
62 TAU - Tel Aviv University
63 Jonsson Comprehensive Cancer Center
64 Dana-Farber Cancer Institute [Boston]
65 JMU - Julius-Maximilians-Universität Würzburg = University of Würzburg [Würsburg, Germany]
66 Rigshospitalet [Copenhagen]
67 CH Georges Renon Niort - Centre Hospitalier Georges Renon [Niort]
68 HCL - Hospices Civils de Lyon
69 University of Kansas [Kansas City]
70 NCI-NIH - National Cancer Institute [Bethesda]
71 Medizinische Universität Wien = Medical University of Vienna
72 Universität zu Köln = University of Cologne
73 DKFZ - German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg]
74 Lancashire NHS Foundation Trust
75 University Hospital Leipzig = Universitätsklinikum Leipzig
76 Department of Medical Oncology, Family Cancer Clinic
77 WWU - Westfälische Wilhelms-Universität Münster = University of Münster
78 Mayo Clinic
79 NorthShore University HealthSystem [Evanston, IL, USA]
80 The University of Chicago Medicine [Chicago]
81 N. N. Petrov Institute of Oncology
82 Georgetown Lombardi Comprehensive Cancer Center
83 Guy's and St Thomas' NHS Foundation Trust
84 Peter MacCallum Cancer Center, East Melbourne
85 Vilnius University [Vilnius]
86 The State Scientific Research Institute Nature Research Centre, Vilnius, Lithuania
87 Stanford University
88 Memorial Sloane Kettering Cancer Center [New York]
89 Cedars-Sinai Medical Center
90 TU Dresden - Technische Universität Dresden = Dresden University of Technology
91 UMCU - University Medical Center [Utrecht]
92 Odense University Hospital [Odense, Denmark]
93 The Hong Kong Hereditary Breast Cancer Family Registry
94 HKU - The University of Hong Kong
95 HKSH - Hong Kong Sanatorium and Hospital [Hong Kong]
96 Equipe de prévention et épidémiologie génétique
97 LBBE - Laboratoire de Biométrie et Biologie Evolutive - UMR 5558
98 David Geffen School of Medicine [Los Angeles]
99 Fondation MINES ParisTech
100 Karolinska Institutet [Stockholm]
101 University of Pittsburgh School of Medicine
102 UNICANCER/CAL - Centre de Lutte contre le Cancer Antoine Lacassagne [Nice]
103 Amsterdam UMC - Amsterdam University Medical Centers
104 TUM - Technische Universität Munchen - Technical University Munich - Université Technique de Munich
105 Radboud University Medical Center [Nijmegen]
106 RPCI - Roswell Park Cancer Institute [Buffalo]
107 Veneto Institute of Oncology IOV-IRCCS [Padua, Italy]
108 University of Toronto
109 University Health Network [Toronto, ON, Canada]
110 University of Pennsylvania
111 University Hospital Düsseldorf
112 Latvian Biomedical Research and Study Centre [Rīga]
113 SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD - Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale
114 IPC - Institut Paoli-Calmettes
115 University of Chicago
116 Birmingham Women's and Children's NHS Foundation Trust
117 CUH - Cambridge University Hospitals - NHS
118 Charité Campus Virchow-Klinikum (CVK)
119 UniFI - Università degli Studi di Firenze = University of Florence = Université de Florence
120 SNUCM - Seoul National University College of Medicine [Séoul, Corée du Sud]
121 SNU - Seoul National University [Seoul]
122 QIMR Berghofer Medical Research Institute
123 AAU - Aalborg University [Denmark]
124 IRCCS Istituto Nazionale dei Tumori [Milano]
125 IPO Porto - Instituto Português de Oncologia do Porto / Portuguese Oncology Institute of Porto
126 IFOM - IFOM, Istituto FIRC di Oncologia Molecolare
127 Peter MacCallum Cancer Center
128 IDIBELL - Institut d'Investigació Biomèdica de Bellvitge = Bellvitge Biomedical Research Institute
129 MRI TUM - Klinikum rechts der Isar
130 UNSW - University of New South Wales [Sydney]
131 Garvan Institute of medical research
132 Technion Faculty of Medicine [Haifa, Israel]
133 YSM - Yale School of Medicine [New Haven, Connecticut]
134 Vejle Hospital [Danemark]
135 OSU - The Ohio State University [Columbus]
136 CRLCC Paul Strauss - Centre Paul Strauss
137 ICANS - Institut de Cancérologie de Strasbourg Europe
138 IRM - Immuno-Rhumatologie Moléculaire
139 University of Kansas Medical Center [Kansas City, KS, USA]
140 Princess Anne Hospital
141 City of Hope Comprehensive Cancer Center [Duarte]
142 Monash University [Clayton]
143 Cancer Council Victoria
144 MHH - Medizinische Hochschule Hannover = Hannover Medical School
145 U830 - Unité de génétique et biologie des cancers
146 UPD5 - Université Paris Descartes - Paris 5
147 Heidelberg University Hospital [Heidelberg]
148 Institute of Biomedical Sciences Abel Salazar - ICBAS [Porto, Portugal]
149 Malaysia and University Malaya Cancer Research Institute
150 Faculty of Medicine, University of Malaya [Kuala Lumpur, Malaisie]
151 McGill University = Université McGill [Montréal, Canada]
152 BIDMC - Beth Israel Deaconess Medical Center [Boston]
153 Grupo de Medicina Xenómica - Fundación Pública Galega Medicina Xenómica - SERGAS [Santiago de Compostela, Spain]
154 Instituto de Investigaciones Sanitarias
155 UGENT - Universiteit Gent = Ghent University = Université de Gand
156 Oxford University Hospitals NHS Trust
157 Universitätsklinikum Ulm - University Hospital of Ulm
158 University Hospital of Cologne [Cologne]
159 Mayo Clinic [Rochester]
Daniel Barnes
- Fonction : Auteur
- PersonId : 768315
- ORCID : 0000-0002-3781-7570
Goska Leslie
- Fonction : Auteur
- PersonId : 791342
- ORCID : 0000-0001-5756-6222
Joe Dennis
- Fonction : Auteur
- PersonId : 791341
- ORCID : 0000-0003-4591-1214
Irene Andrulis
- Fonction : Auteur
- PersonId : 806569
- ORCID : 0000-0002-4226-6435
Jacopo Azzollini
- Fonction : Auteur
- PersonId : 773228
- ORCID : 0000-0002-9364-9778
Daniel Barrowdale
- Fonction : Auteur
- PersonId : 768869
- ORCID : 0000-0003-1661-3939
Bernardo Bonanni
- Fonction : Auteur
- PersonId : 762720
- ORCID : 0000-0003-3589-2128
Trinidad Caldés
- Fonction : Auteur
- PersonId : 762555
- ORCID : 0000-0002-1038-5392
Wendy Chung
- Fonction : Auteur
- PersonId : 786377
- ORCID : 0000-0003-3438-5685
Kathleen Claes
- Fonction : Auteur
- PersonId : 791343
- ORCID : 0000-0003-0841-7372
Peter Devilee
- Fonction : Auteur
- PersonId : 763377
- ORCID : 0000-0002-8023-2009
- IdRef : 074428608
Laurence Faivre
- Fonction : Auteur
- PersonId : 757929
- ORCID : 0000-0001-9770-444X
Sophie Giraud
- Fonction : Auteur
- PersonId : 1359982
- ORCID : 0000-0003-1243-3084
Mark Greene
- Fonction : Auteur
- PersonId : 798122
- ORCID : 0000-0003-1852-9239
Peter Hulick
- Fonction : Auteur
- PersonId : 791345
- ORCID : 0000-0001-8397-4078
Anna Jakubowska
- Fonction : Auteur
- PersonId : 762556
- ORCID : 0000-0002-5650-0501
Paul James
- Fonction : Auteur
- PersonId : 791346
- ORCID : 0000-0002-4361-4657
Fabienne Lesueur
- Fonction : Auteur
- PersonId : 766610
- ORCID : 0000-0001-7404-4549
- IdRef : 165329939
Austin Miller
- Fonction : Auteur
- PersonId : 798123
- ORCID : 0000-0001-9739-8462
Katherine Nathanson
- Fonction : Auteur
- PersonId : 806570
- ORCID : 0000-0002-6740-0901
Heli Nevanlinna
- Fonction : Auteur
- PersonId : 762552
- ORCID : 0000-0002-0916-2976
Catherine C. Nogues
- Fonction : Auteur
- PersonId : 21280
- IdHAL : catherine-nogues
- ORCID : 0000-0002-5768-6299
- IdRef : 030671175
Olufunmilayo Olopade
- Fonction : Auteur
- PersonId : 806571
- ORCID : 0000-0002-9936-1599
Sue Park
- Fonction : Auteur
- PersonId : 806572
- ORCID : 0000-0001-5002-9707
Michael Parsons
- Fonction : Auteur
- PersonId : 172259
- IdHAL : michael-parsons
- ORCID : 0000-0002-8091-0893
Inge Sokilde Pedersen
- Fonction : Auteur
- PersonId : 806573
- ORCID : 0000-0002-9902-8040
Paolo Peterlongo
- Fonction : Auteur
- PersonId : 762723
- ORCID : 0000-0001-6951-6855
Paolo Radice
- Fonction : Auteur
- PersonId : 763238
- ORCID : 0000-0001-6298-4111
Gad Rennert
- Fonction : Auteur
- PersonId : 766345
- ORCID : 0000-0002-8512-068X
Mark Robson
- Fonction : Auteur
- PersonId : 795764
- ORCID : 0000-0002-3109-1692
Priyanka Sharma
- Fonction : Auteur
- PersonId : 757755
- ORCID : 0000-0003-3890-3590
Dominique Stoppa-Lyonnet
- Fonction : Auteur
- PersonId : 770393
- ORCID : 0000-0002-5438-8309
- IdRef : 050298550
Amanda Toland
- Fonction : Auteur
- PersonId : 806574
- ORCID : 0000-0002-0271-1792
Ana Vega
- Fonction : Auteur
- PersonId : 763402
- ORCID : 0000-0002-7416-5137
Jeffrey Weitzel
- Fonction : Auteur
- PersonId : 806575
- ORCID : 0000-0001-6714-092X
Siddhartha Yadav
- Fonction : Auteur
- PersonId : 806576
- ORCID : 0000-0003-4630-9903
Xin Yang
- Fonction : Auteur
- PersonId : 762750
- ORCID : 0000-0002-7506-9673
Drakoulis Yannoukakos
- Fonction : Auteur
- PersonId : 764694
- ORCID : 0000-0001-7509-3510
- IdRef : 111519055
Jacques Simard
- Fonction : Auteur
- PersonId : 757778
- ORCID : 0000-0001-6906-3390
Douglas Easton
- Fonction : Auteur
- PersonId : 782295
- ORCID : 0000-0003-2444-3247
Résumé
We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods: Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results: The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10 −72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10 −50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10 −22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10 −12) carriers. The associations in the prospective cohort were similar. Conclusion: Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
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