Article

A germline heterozygous<i>POLQ</i>nonsense mutation causes hereditary colorectal cancer

2024-01-15

Abstract excerpt

The causal genes for a large proportion of hereditary colorectal adenomas and early-onset colorectal cancer (CRC) remain to be identified. Here, we identified a germline heterozygous stop-gain mutation p.Arg1953X (rs150312701) of the POLQ (DNA Polymerase Theta) gene, which is co-segregated with disease status, by whole-exome sequencing of twelve hereditary CRC pedigrees. The mutation was validated in an independen...

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Literature Corpus work: 441a827d-4086-59c6-9c90-2d99dd783a80
DOI: 10.1101/2024.01.13.23299913

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