DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
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ABSTRACT: The phenotypic effects of single nucleotide polymorphisms (SNPs) in the development of sporadic solid cancers are still scarce. The aim of this review was to summarise and analyse published data on the associations between SNPs in mismatch repair genes and various cancers. The mismatch repair system plays a unique role in the control of the genetic integrity and it is often inactivated (germline and somatic mutations and hypermethylation) in cancer patients. Here, we focused on germline variants in mismatch repair genes and found the outcomes rather controversial: some SNPs are sometimes ascribed as protective, while other studies reported their pathological effects. Regarding the complexity of cancer as one disease, we attempted to ascertain if particular polymorphisms exert the effect in
SUBMITTER: Caja F
PROVIDER: S-EPMC7432688 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
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