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Screening a human population sample for DNA repair gene deficiencies utilizing the protein truncation test.

Environmental and molecular mutagenesis - 1 Jan 2000

Chen J, Yu Z, Ford B N, Brackley M E, Haesevoets R J, Khaidakov M, Glickman B W

Abstract excerpt

A significant fraction of human cancers are thought to have a genetic component and several lines of evidence suggest that deficiencies in DNA repair may be a contributing factor. Little is known, however, about the frequency and distribution of variants of DNA repair genes in the general human population. The protein truncation test (PTT) was used to screen 136 healthy volunteers for protein-truncating variants...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11044904

Genes

CCNH
CDK7
ERCC1
MGMT
POLB
UNG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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