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

ABSTRACT:

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 cancer susceptibility in general population remains unclear.

Methods

We tested the prevalence of NTHL1 nonsense variant c.268C>T, p.Q90*, which is the major allele in NTHL1 families and also shows enrichment in the Finnish population, in a total of 1333 breast cancer patients. Genotyping was performed for DNA samples extracted from peripheral blood by using high-resolu

SUBMITTER: Kumpula T 

PROVIDER: S-EPMC7667375 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature