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Article

Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer.

PloS one - 1 Jan 2014

Kohlhase Sandra, Bogdanova Natalia V, Schürmann Peter, Bermisheva Marina, Khusnutdinova Elza, Antonenkova Natalia, Park-Simon Tjoung-Won, Hillemanns Peter, Meyer Andreas, Christiansen Hans, Schindler Detlev, Dörk Thilo

Abstract excerpt

The ERCC4 protein forms a structure-specific endonuclease involved in the DNA damage response. Different cancer syndromes such as a subtype of Xeroderma pigmentosum, XPF, and recently a subtype of Fanconi Anemia, FA-Q, have been attributed to biallelic ERCC4 gene mutations. To investigate whether monoallelic ERCC4 gene defects play some role in the inherited component of breast cancer susceptibility, we sequenced...

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Identifiers

PMID: 24465539
DOI: 10.1371/journal.pone.0085334
PMCID: PMC3897449

Genes

ERCC4

Variants

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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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