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

doi:10.1097/MPA.0b013e318220c217

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 journal › Article › peer-review

9 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	1138-1140
Number of pages	3
Journal	Pancreas
Volume	40
Issue number	7
DOIs	https://doi.org/10.1097/MPA.0b013e318220c217
State	Published - Oct 2011

Keywords

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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Cite this

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title = "Pancreatic cancer and a novel MSH2 germline alteration",

abstract = "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.",

keywords = "Lynch syndrome, genetics, hereditary, hereditary nonpolyposis colorectal cancer, pancreatic cancer",

author = "Lindor, {Noralane M.} and Petersen, {Gloria M.} and Spurdle, {Amanda B.} and Bryony Thompson and Goldgar, {David E.} and Thibodeau, {Stephen N.}",

year = "2011",

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doi = "10.1097/MPA.0b013e318220c217",

language = "English (US)",

volume = "40",

pages = "1138--1140",

journal = "Pancreas",

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publisher = "Lippincott Williams and Wilkins",

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T1 - Pancreatic cancer and a novel MSH2 germline alteration

AU - Lindor, Noralane M.

AU - Petersen, Gloria M.

AU - Spurdle, Amanda B.

AU - Thompson, Bryony

AU - Goldgar, David E.

AU - Thibodeau, Stephen N.

PY - 2011/10

Y1 - 2011/10

N2 - 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.

AB - 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.

KW - Lynch syndrome

KW - genetics

KW - hereditary

KW - hereditary nonpolyposis colorectal cancer

KW - pancreatic cancer

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Pancreatic cancer and a novel MSH2 germline alteration

Abstract

Keywords

ASJC Scopus subject areas

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