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DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers
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SYSNO ASEP 0537250 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers Author(s) Čaja, Fabian (MBU-M) ORCID
Vodičková, Ludmila (UEM-P) RID
Král, Jan (UEM-P)
Vymetálková, Veronika (UEM-P) RID
Naccarati, Alessio (UEM-P)
Vodička, Pavel (UEM-P) RIDArticle number 5561 Source Title International Journal of Molecular Sciences. - : MDPI
Roč. 21, č. 15 (2020)Number of pages 29 s. Language eng - English Country CH - Switzerland Keywords mismatch repair ; genetic variants ; genes ; genotype ; single nucleotide polymorphism Subject RIV EE - Microbiology, Virology OECD category Microbiology Subject RIV - cooperation Institute of Experimental Medicine - Genetics ; Molecular Biology R&D Projects GA18-09709S GA ČR - Czech Science Foundation (CSF) GA19-10543S GA ČR - Czech Science Foundation (CSF) NV18-03-00199 GA MZd - Ministry of Health (MZ) Method of publishing Open access Institutional support MBU-M - RVO:61388971 ; UEM-P - RVO:68378041 UT WOS 000567249700001 EID SCOPUS 85089122841 DOI 10.3390/ijms21155561 Annotation 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 the same direction in the development and treatment of different malignancies, although it is still not straightforward to conclude whether polymorphisms always play a clear positive role or a negative one. Most recent and robust genome-wide studies suggest that risk of cancer is modulated by variants in mismatch repair genes, for example in colorectal cancer. Our study shows that rs1800734 inMLH1or rs2303428 inMSH2may influence the development of different malignancies. The lack of functional studies on many DNA mismatch repair SNPs as well as their interactions are not explored yet. Notably, the concerted action of more variants in one individual may be protective or harmful. Further, complex interactions of DNA mismatch repair variations with both the environment and microenvironment in the cancer pathogenesis will deserve further attention. Workplace Institute of Microbiology Contact Eliška Spurná, eliska.spurna@biomed.cas.cz, Tel.: 241 062 231 Year of Publishing 2021 Electronic address https://www.mdpi.com/1422-0067/21/15/5561
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