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Article

Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.

Molecular genetics & genomic medicine - 1 Nov 2020

Kumpula Timo, Tervasmäki Anna, Mantere Tuomo, Koivuluoma Susanna, Huilaja Laura, Tasanen Kaisa, Winqvist Robert, de Voer Richarda M, Pylkäs Katri

Abstract excerpt

BACKGROUND: Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal polyposis, and breast cancer. Although there is strong evidence for breast cancer being a part of the cancer spectrum in these families, the role of pathogenic NTHL1 variants in breast...

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PMID: 32949222
DOI: 10.1002/mgg3.1493
PMCID: PMC7667375

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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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