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Article

Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe.

Familial cancer - 1 Apr 2017

Bogdanova Natalia, Pfeifer Katja, Schürmann Peter, Antonenkova Natalia, Siggelkow Wulf, Christiansen Hans, Hillemanns Peter, Park-Simon Tjoung-Won, Dörk Thilo

Abstract excerpt

RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. The most common RECQL mutation, the 4 bp-deletion c.1667_1667+3delAGTA, was five-fold enriched in Polish breast cancer patients, but the exact magnitude of the risk is uncertain. We investigated two hospital-based breast cancer case-control series from Belarus and...

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Source

Identifiers

PMID: 27832498
DOI: 10.1007/s10689-016-9944-y

Genes

RECQL

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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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