OBJECTIVE: The objective of this study was to describe a novel MSH2 missense alteration cosegregating with pancreatic cancer.
METHODS: The method used was an observational study of a kindred in which a novel MSH2 missense alteration was identified.
RESULTS: We report a family in which a MSH2 P349L missense alteration is cosegregating with pancreatic cancers among 3 nonsmoking first-degree relatives. Lynch syndrome-related tumors from individuals carrying this alteration consistently showed loss of immunohistochemical expression of MSH2, and in silico analyses support the interpretation of this DNA alteration as likely pathogenic.
CONCLUSIONS: The MSH2 P349L may increase the risk for pancreatic cancer beyond the usual mutations in DNA mismatch repair genes; however, studies of additional families with the identical missense alteration are needed to confirm this initial impression.
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