Literature DB >> 21926548

Pancreatic cancer and a novel MSH2 germline alteration.

Noralane M Lindor1, Gloria M Petersen, Amanda B Spurdle, Bryony Thompson, David E Goldgar, Stephen N Thibodeau.   

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.

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Year:  2011        PMID： 21926548      PMCID： PMC3425611          DOI： 10.1097/MPA.0b013e318220c217

Source DB:  PubMed          Journal:  Pancreas        ISSN： 0885-3177            Impact factor:   3.327


  25 in total

1.  Amino acid substitution matrices from protein blocks.

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Journal:  Proc Natl Acad Sci U S A       Date:  1992-11-15       Impact factor: 11.205

2.  Cancer risk in mutation carriers of DNA-mismatch-repair genes.

Authors:  M Aarnio; R Sankila; E Pukkala; R Salovaara; L A Aaltonen; A de la Chapelle; P Peltomäki; J P Mecklin; H J Järvinen
Journal:  Int J Cancer       Date:  1999-04-12       Impact factor: 7.396

3.  The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Authors:  J M Cunningham; C Y Kim; E R Christensen; D J Tester; Y Parc; L J Burgart; K C Halling; S K McDonnell; D J Schaid; C Walsh Vockley; V Kubly; H Nelson; V V Michels; S N Thibodeau
Journal:  Am J Hum Genet       Date:  2001-08-24       Impact factor: 11.025

4.  New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

Authors:  H F Vasen; P Watson; J P Mecklin; H T Lynch
Journal:  Gastroenterology       Date:  1999-06       Impact factor: 22.682

5.  Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Authors:  Heather Hampel; Wendy L Frankel; Edward Martin; Mark Arnold; Karamjit Khanduja; Philip Kuebler; Hidewaki Nakagawa; Kaisa Sotamaa; Thomas W Prior; Judith Westman; Jenny Panescu; Dan Fix; Janet Lockman; Ilene Comeras; Albert de la Chapelle
Journal:  N Engl J Med       Date:  2005-05-05       Impact factor: 91.245

6.  Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

Authors:  J T Wijnen; H F Vasen; P M Khan; A H Zwinderman; H van der Klift; A Mulder; C Tops; P Møller; R Fodde
Journal:  N Engl J Med       Date:  1998-08-20       Impact factor: 91.245

7.  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.

Authors:  Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava
Journal:  J Natl Cancer Inst       Date:  2004-02-18       Impact factor: 13.506

8.  BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair.

Authors:  Liang Wang; Julie M Cunningham; Jennifer L Winters; Jennifer C Guenther; Amy J French; Lisa A Boardman; Lawrence J Burgart; Shannon K McDonnell; Daniel J Schaid; Stephen N Thibodeau
Journal:  Cancer Res       Date:  2003-09-01       Impact factor: 12.701

9.  BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.

Authors:  E Domingo; P Laiho; M Ollikainen; M Pinto; L Wang; A J French; J Westra; T Frebourg; E Espín; M Armengol; R Hamelin; H Yamamoto; R M W Hofstra; R Seruca; A Lindblom; P Peltomäki; S N Thibodeau; L A Aaltonen; S Schwartz
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

10.  Extracolonic cancer in hereditary nonpolyposis colorectal cancer.

Authors:  P Watson; H T Lynch
Journal:  Cancer       Date:  1993-02-01       Impact factor: 6.860
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1.  Pancreatic non-functioning neuroendocrine tumor: a new entity genetically related to Lynch syndrome.

Authors:  Anna Serracant Barrera; Sheila Serra Pla; Carmen María Blázquez Maña; Rubén Carrera Salas; Neus García Monforte; Natalia Bejarano González; Andreu Romaguera Monzonis; Francisco Javier Andreu Navarro; Maria Rosa Bella Cueto; Francisco G Borobia
Journal:  J Gastrointest Oncol       Date:  2017-10

2.  Negative methylation status of vimentin predicts improved prognosis in pancreatic carcinoma.

Authors:  Yi-Feng Zhou; Wei Xu; Xia Wang; Jin-Shan Sun; Jing-Jing Xiang; Zhao-Shen Li; Xiao-Feng Zhang
Journal:  World J Gastroenterol       Date:  2014-09-28       Impact factor: 5.742

Review 3.  Inherited pancreatic cancer syndromes.

Authors:  Sheila Solomon; Siddhartha Das; Randall Brand; David C Whitcomb
Journal:  Cancer J       Date:  2012 Nov-Dec       Impact factor: 3.360

4.  Cancer Risks for PMS2-Associated Lynch Syndrome.

Authors:  Sanne W Ten Broeke; Heleen M van der Klift; Carli M J Tops; Stefan Aretz; Inge Bernstein; Daniel D Buchanan; Albert de la Chapelle; Gabriel Capella; Mark Clendenning; Christoph Engel; Steven Gallinger; Encarna Gomez Garcia; Jane C Figueiredo; Robert Haile; Heather L Hampel; John L Hopper; Nicoline Hoogerbrugge; Magnus von Knebel Doeberitz; Loic Le Marchand; Tom G W Letteboer; Mark A Jenkins; Annika Lindblom; Noralane M Lindor; Arjen R Mensenkamp; Pål Møller; Polly A Newcomb; Theo A M van Os; Rachel Pearlman; Marta Pineda; Nils Rahner; Egbert J W Redeker; Maran J W Olderode-Berends; Christophe Rosty; Hans K Schackert; Rodney Scott; Leigha Senter; Liesbeth Spruijt; Verena Steinke-Lange; Manon Suerink; Stephen Thibodeau; Yvonne J Vos; Anja Wagner; Ingrid Winship; Frederik J Hes; Hans F A Vasen; Juul T Wijnen; Maartje Nielsen; Aung Ko Win
Journal:  J Clin Oncol       Date:  2018-08-30       Impact factor: 50.717

Review 5.  Pancreatic Cancer in Lynch Syndrome Patients.

Authors:  Luis Bujanda; Marta Herreros-Villanueva
Journal:  J Cancer       Date:  2017-10-11       Impact factor: 4.207
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