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Article

Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome.

International journal of clinical oncology - 1 Sept 2019

Tamura Kazuo, Kaneda Motohide, Futagawa Mashu, Takeshita Miho, Kim Sanghyuk, Nakama Mina, Kawashita Norihito, Tatsumi-Miyajima Junko

Abstract excerpt

Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1, MSH2, MSH6, and PMS2) encoding mismatch repair proteins. Being located immediately upstream of the MSH2 gene, EPCAM abnormalities can affect MSH2 and cause Lynch...

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Source

Identifiers

PMID: 31273487
DOI: 10.1007/s10147-019-01494-y

Genes

MSH2
MLH1
MSH6
PMS2
EPCAM
MSH3

Provenance

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