Article

A maternal germline mutator phenotype in a family affected by heritable colorectal cancer

2023-12-18

Abstract excerpt

Variation in DNA repair genes can increase cancer risk by elevating the rate of oncogenic mutation. Defects in one such gene, MUTYH , are known to elevate the incidence of colorectal cancer in a recessive Mendelian manner. Recent evidence has also linked MUTYH to a mutator phenotype affecting normal somatic cells as well as the female germline. Here, we use whole genome sequencing to measure germline de novo mut...

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Literature Corpus work: dd8befb4-b5aa-5f80-8f7e-f866ee577edd
DOI: 10.1101/2023.12.08.23299304

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