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Article

Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.

International journal of cancer - 1 Jun 2018

Tervasmäki Anna, Mantere Tuomo, Hartikainen Jaana M, Kauppila Saila, Lee Hang-Mao, Koivuluoma Susanna, Grip Mervi, Karihtala Peeter, Jukkola-Vuorinen Arja, Mannermaa Arto, Winqvist Robert, Pylkäs Katri

Abstract excerpt

Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are likely to be discovered. Many of the previous studies utilizing massive parallel sequencing have focused on the protein-truncating variants, and the role of rare missense...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29341116
DOI: 10.1002/ijc.31259

Genes

POLG
RECQL

Variants

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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