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Article

Functional characterization of genetic polymorphisms in the H2AFX distal promoter.

Mutation research - 1 Jan 2000

Bretherick Karla L, Leach Stephen, Brooks-Wilson Angela R

Abstract excerpt

Due to the critical role of the H2AX histone variant in double-strand break repair, genetic variants in the H2AX gene, H2AFX, may influence cancer susceptibility. Genetic association studies have correlated H2AFX upstream variants with cancer risk; however it is unclear if any are causal. H2AFX has at least two alternate transcripts that encode the same reading frame; a short 0.6kb transcript that lacks an intron...

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Identifiers

PMID: 25847270
DOI: 10.1016/j.mrfmmm.2014.05.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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