Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites.

Alleles Binding Sites Carcinoma, Ovarian Epithelial / diagnosis Chromosome Mapping Co-Repressor Proteins / genetics Cystadenocarcinoma, Serous / diagnosis Enhancer Elements, Genetic Female Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Histones / genetics Humans Inheritance Patterns Nerve Tissue Proteins / genetics Ovarian Neoplasms / diagnosis Penetrance Polymorphism, Single Nucleotide Risk
cells of origin epigenomics epithelial ovarian cancer functional enrichment genome-wide association studies heritability motif

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
01 10 2020
Historique:
received: 15 04 2020
accepted: 15 08 2020
pubmed: 19 9 2020
medline: 1 12 2020
entrez: 18 9 2020
Statut: ppublish

Résumé

Quantifying the functional effects of complex disease risk variants can provide insights into mechanisms underlying disease biology. Genome-wide association studies have identified 39 regions associated with risk of epithelial ovarian cancer (EOC). The vast majority of these variants lie in the non-coding genome, where they likely function through interaction with gene regulatory elements. In this study we first estimated the heritability explained by known common low penetrance risk alleles for EOC. The narrow sense heritability (h

Identifiants

DOI: 10.1016/j.ajhg.2020.08.021 PMID: 32946763 PMC: PMC7536645
pubmed: 32946763
pii: S0002-9297(20)30290-1
doi: 10.1016/j.ajhg.2020.08.021
pmc: PMC7536645
pii:
doi:

Substances chimiques

Co-Repressor Proteins 0
Histones 0
Nerve Tissue Proteins 0
RCOR1 protein, human 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

622-635

Informations de copyright

Copyright © 2020. Published by Elsevier Inc.

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Auteurs

Michelle R Jones (MR)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Pei-Chen Peng (PC)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Simon G Coetzee (SG)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Jonathan Tyrer (J)

CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.

Alberto Luiz P Reyes (ALP)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Rosario I Corona (RI)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Brian Davis (B)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Stephanie Chen (S)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Felipe Dezem (F)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Ji-Heui Seo (JH)

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.

Siddartha Kar (S)

MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.

Eileen Dareng (E)

CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.

Benjamin P Berman (BP)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Hebrew University-Hadassah Medical School, Jerusalem 9112102, Israel.

Matthew L Freedman (ML)

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.

Jasmine T Plummer (JT)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Kate Lawrenson (K)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Paul Pharoah (P)

CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.

Dennis J Hazelett (DJ)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Simon A Gayther (SA)

Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. Electronic address: simon.gayther@cshs.org.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Sites de fixation › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Carcinome épithélial de l'ovaire › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Cartographie chromosomique › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Protéines corépressives › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs épithéliales épidermoïdes et glandulaires › Tumeurs kystiques, mucineuses et séreuses › Cystadénocarcinome › Cystadénocarcinome séreux › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Éléments activateurs (génétique) › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Histone › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Pénétrance › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Ovarian Cancer Risk Variants Are Enriched in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Ovarian Cancer Risk Variants Are Enriched in...