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Mol Aspects Med. 2019 Oct;69:62-72. doi: 10.1016/j.mam.2019.05.002. Epub 2019 May 23.

Somatic mutational signatures in polyposis and colorectal cancer.

Author information

1
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
2
Gastroenterology Department, Hospital Clínic de Barcelona, August Pi I Sunyer Biomedical Research Institute, CIBER of Hepatic and Digestive Diseases, University of Barcelona, Barcelona, Spain.
3
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: richarda.devoer@radboudumc.nl.

Abstract

The somatic mutation spectrum imprinted in the genome of a tumor represents the mutational processes that have been active in that tumor. Large sequencing efforts in various cancer types have resulted in the identification of multiple mutational signatures, of which several have been linked to specific biological mechanisms. Several pan-cancer mutational signatures have been identified, while other signatures are only found in specific tissue types. Research on tumors from individuals with specific DNA repair defects has led to links between specific mutational signatures and mutational processes. Studying mutational signatures in cancers that are likely the result of a genetic predisposition may represent an interesting strategy to identify constitutional DNA repair defects, including those underlying polyposis and colorectal cancer.

KEYWORDS:

Colorectal cancer; Defective DNA repair; Genetic predisposition; Mutational process; Mutational signature; Polyposis

PMID:
31108140
DOI:
10.1016/j.mam.2019.05.002
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