Population-based targeted sequencing of 54 candidate genes identifies

Case-Control Studies Fanconi Anemia Complementation Group N Protein / genetics Female Genetic Predisposition to Disease Genetic Variation Humans Ovarian Neoplasms / genetics Risk Assessment
cancer: endocrine genetic epidemiology

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
05 2021
Historique:
received: 26 11 2019
revised: 13 03 2020
accepted: 12 05 2020
pubmed: 18 6 2020
medline: 19 1 2022
entrez: 18 6 2020
Statut: ppublish

Résumé

The known epithelial ovarian cancer (EOC) susceptibility genes account for less than 50% of the heritable risk of ovarian cancer suggesting that other susceptibility genes exist. The aim of this study was to evaluate the contribution to ovarian cancer susceptibility of rare deleterious germline variants in a set of candidate genes. We sequenced the coding region of 54 candidate genes in 6385 invasive EOC cases and 6115 controls of broad European ancestry. Genes with an increased frequency of putative deleterious variants in cases versus controls were further examined in an independent set of 14 135 EOC cases and 28 655 controls from the Ovarian Cancer Association Consortium and the UK Biobank. For each gene, we estimated the EOC risks and evaluated associations between germline variant status and clinical characteristics. The ORs associated for high-grade serous ovarian cancer were 3.01 for We have found strong evidence that carriers of

Identifiants

DOI: 10.1136/jmedgenet-2019-106739 PMID: 32546565 PMC: PMC8086250
pubmed: 32546565
pii: jmedgenet-2019-106739
doi: 10.1136/jmedgenet-2019-106739
pmc: PMC8086250
doi:

Substances chimiques

Fanconi Anemia Complementation Group N Protein 0
PALB2 protein, human 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

305-313

Subventions

Organisme : NCI NIH HHS
ID : R01 CA188943
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA159981
Pays : United States
Organisme : Cancer Research UK
ID : C490/A10119
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12023/20
Pays : United Kingdom
Organisme : NCATS NIH HHS
ID : UL1 TR000124
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA076016
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA248288
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA126841
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA087538
Pays : United States
Organisme : Medical Research Council
ID : MR_UU_12023
Pays : United Kingdom
Organisme : NCRR NIH HHS
ID : M01 RR000056
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA095023
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA178535
Pays : United States
Organisme : Cancer Research UK
ID : C490/A16561
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : K07 CA080668
Pays : United States
Organisme : Cancer Research UK
ID : C490/A10124
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : K22 CA193860
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA122443
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA015083
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA112523
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA136393
Pays : United States

Informations de copyright

© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

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Auteurs

Honglin Song (H)

Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.

Ed M Dicks (EM)

Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.

Jonathan Tyrer (J)

Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.

Maria Intermaggio (M)

School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.

Georgia Chenevix-Trench (G)

Cancer Genetics, Queensland Institute of Medical Research-QIMR, Herston, Queensland, Australia.

David D Bowtell (DD)

Cancer Genomics and Genetics and Women's Cancer Programs, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.

Nadia Traficante (N)

Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.

Aocs Group (A)

QIMR Berghofer Department of Genetics and Computational Biology, Herston, Queensland, Australia.
Department of Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.

James Brenton (J)

Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, Cambridgeshire, UK.

Teodora Goranova (T)

Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, Cambridgeshire, UK.

Karen Hosking (K)

Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.

Anna Piskorz (A)

Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, Cambridgeshire, UK.

Elke van Oudenhove (E)

Laura and Isaac Perlmutter Cancer Center, New York University, New York, New York, USA.

Jen Doherty (J)

Huntsman Institute, University of Utah, Salt Lake City, Utah, USA.

Holly R Harris (HR)

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Department of Epidemiology, University of Washington, Seattle, Washington, USA.

Mary Anne Rossing (MA)

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Department of Epidemiology, University of Washington, Seattle, Washington, USA.

Matthias Duerst (M)

Department of Gynaecology, Jena University Hospital, Friedrich Schiller University Jena, Jena, Thüringen, Germany.

Thilo Dork (T)

Gynaecology Research Unit, Hannover Medical School, Hannover, Niedersachsen, Germany.

Natalia V Bogdanova (NV)

Department of Radiation Oncology, Hannover Medical School, Hannover, Niedersachsen, Germany.
Department of Gynaecology, NN Alexandrov National Cancer Centre, Minsk, Minsk, Belarus.

Francesmary Modugno (F)

Womens Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA.
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Kirsten Moysich (K)

Division of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA.

Kunle Odunsi (K)

Department of Gynecologic Oncology, Roswell Park Cancer Institute, Buffalo, New York, USA.

Roberta Ness (R)

School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA.

Beth Y Karlan (BY)

Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

Jenny Lester (J)

Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

Allan Jensen (A)

Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Kobenhavn, Denmark.

Susanne Krüger Kjaer (S)

Department of Gynaecology, Rigshospitalet, University of Copenhagen, Kobenhavn, Denmark.

Estrid Høgdall (E)

Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Kobenhavn, Denmark.
Department of Pathology, Herlev Hospital, University of Copenhagen, Kobenhavn, Denmark.

Ian G Campbell (IG)

Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Department of Research, Cancer Genomics and Genetics, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.

Conxi Lázaro (C)

Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Catalunya, Spain.

Miguel Angel Pujara (MA)

Translational Research Laboratory, Catalan Institute of Oncology, Barcelona, Catalunya, Spain.

Julie Cunningham (J)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Robert Vierkant (R)

Department of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.

Stacey J Winham (SJ)

Department of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.

Michelle Hildebrandt (M)

Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

Chad Huff (C)

Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
ORCID: 0000-0002-2386-1503

Donghui Li (D)

Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

Xifeng Wu (X)

Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

Yao Yu (Y)

Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

Jennifer B Permuth (JB)

Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA.

Douglas A Levine (DA)

Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Gynecologic Oncology, Laura and Isaac Pearlmutter Cancer Center, New York University, New York, New York, USA.

Joellen M Schildkraut (JM)

Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.

Marjorie J Riggan (MJ)

Department of Gynecologic Oncology, Duke University Hospital, Durham, North Carolina, USA.

Andrew Berchuck (A)

Department of Gynecologic Oncology, Duke University Hospital, Durham, North Carolina, USA.

Penelope M Webb (PM)

Population Health Department, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.

Opal Study Group (OS)

Population Health Department, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.

Cezary Cybulski (C)

Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.
ORCID: 0000-0002-2819-3057

Jacek Gronwald (J)

Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.

Anna Jakubowska (A)

Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.
Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.

Jan Lubinski (J)

Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.

Jennifer Alsop (J)

Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.

Patricia Harrington (P)

Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.

Isaac Chan (I)

School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.

Usha Menon (U)

MRC Clinical Trials Unit, Institute of Clinical Trials & Methodology, University College London, London, London, UK.

Celeste L Pearce (CL)

Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.

Anna H Wu (AH)

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

Anna de Fazio (A)

Centre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Department of Gynaecological Oncology, Westmead Hospital, Westmead, New South Wales, Australia.

Catherine J Kennedy (CJ)

Centre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Department of Gynaecological Oncology, Westmead Hospital, Westmead, New South Wales, Australia.

Ellen Goode (E)

Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota, USA.

Susan Ramus (S)

School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.

Simon Gayther (S)

Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core, Cedars-Sinai Medical Center, Los Angeles, California, USA.

Paul Pharoah (P)

Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK pp10001@medschl.cam.ac.uk.
ORCID: 0000-0001-8494-732X

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Population-based targeted sequencing of 54...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Protéine du groupe de complémentation N de l'anémie de Fanconi › Population-based targeted sequencing of 54...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Population-based targeted sequencing of 54...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Population-based targeted sequencing of 54...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Population-based targeted sequencing of 54...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Population-based targeted sequencing of 54...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Appréciation des risques › Population-based targeted sequencing of 54...