Pancreatic cancer and a novel MSH2 germline alteration

Noralane M. Lindor, Gloria M. Petersen, Amanda B. Spurdle, Bryony Thompson, David E. Goldgar, Stephen N. Thibodeau

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1138-1140
Number of pages3
Issue number7
StatePublished - Oct 2011


  • Lynch syndrome
  • genetics
  • hereditary
  • hereditary nonpolyposis colorectal cancer
  • pancreatic cancer

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Endocrinology


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