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

doi:10.1016/j.ajhg.2020.08.021

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Article

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

American journal of human genetics - 1 Oct 2020

Jones Michelle R, Peng Pei-Chen, Coetzee Simon G, Tyrer Jonathan, Reyes Alberto Luiz P, Corona Rosario I, Davis Brian, Chen Stephanie, Dezem Felipe, Seo Ji-Heui, Kar Siddartha, Dareng Eileen, Berman Benjamin P, Freedman Matthew L, Plummer Jasmine T, Lawrenson Kate, Pharoah Paul, Hazelett Dennis J, Gayther Simon A

Abstract excerpt

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...

Topics

Alleles
Binding Sites
Carcinoma, Ovarian Epithelial
Chromosome Mapping
Co-Repressor Proteins
Cystadenocarcinoma, Serous
Enhancer Elements, Genetic
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Genome, Human

Genome-Wide Association Study

Histones

Humans

Inheritance Patterns

Nerve Tissue Proteins

Ovarian Neoplasms

Penetrance

Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 32946763
DOI: 10.1016/j.ajhg.2020.08.021
PMCID: PMC7536645

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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