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Article

Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer.

American journal of epidemiology - 8 Apr 2025

Ezquina Suzana A M, Jones Michelle, Dicks Ed, de Vries Amber, Peng Pei-Chen, Lawrenson Kate, Corona Rosario I, Tyrer Jonathan, Hazelett Dennis, Brenton James, Antoniou Antonis, Gayther Simon A, Pharoah Paul D P

Abstract excerpt

Common genetic variation throughout the genome and rare coding variants identified to date explain about half of the inherited genetic component of epithelial ovarian cancer risk. It is likely that rare variation in the noncoding genome will explain some of the unexplained heritability, but identifying such variants is challenging. The primary problem is a lack of statistical power to identify individual risk...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39191651
DOI: 10.1093/aje/kwae301
PMCID: PMC11978604

Genes

PAX8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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