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. Copyright © 2011 by Lippincott Williams & Wilkins.
CITATION STYLE
Lindor, N. M., Petersen, G. M., Spurdle, A. B., Thompson, B., Goldgar, D. E., & Thibodeau, S. N. (2011). Pancreatic cancer and a novel MSH2 germline alteration. Pancreas, 40(7), 1138–1140. https://doi.org/10.1097/MPA.0b013e318220c217
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