Somatic mutational signatures in polyposis and colorectal cancer.

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.

journal_name

Mol Aspects Med

authors

Grolleman JE,Díaz-Gay M,Franch-Expósito S,Castellví-Bel S,de Voer RM

doi

10.1016/j.mam.2019.05.002

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

62-72

eissn

0098-2997

issn

1872-9452

pii

S0098-2997(19)30007-X

journal_volume

69

pub_type

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