Pancreatic cancer and a novel MSH2 germline alteration

Pancreas

Volumn 40, Issue 7, 2011, Pages 1138-1140

  Lindor, Noralane M ^a   Petersen, Gloria M ^a   Spurdle, Amanda B ^b   Thompson, Bryony ^b   Goldgar, David E ^c   Thibodeau, Stephen N ^a  

^a MAYO CLINIC   (United States)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

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

Indexed keywords

PROTEIN MSH2;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COMPUTER MODEL; FEMALE; GENE EXPRESSION; GENETIC IDENTIFICATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; PANCREAS CANCER; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HEREDITY; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; PANCREATIC NEOPLASMS; PEDIGREE; PHENOTYPE;

EID: 80053017229     PISSN: 08853177     EISSN: 15364828     Source Type: Journal    
DOI: 10.1097/MPA.0b013e318220c217     Document Type: Article

References (25)

1. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352(18):1851- 1860.
2. Wijnen J, Vasen H, Kahn M, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med. 1998;339:511-518. (Pubitemid 28384884)
3. Vasen H, Watson P, Mecklin J, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116(6):1453-1456. (Pubitemid 29258894)
4. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome. JAMA. 2006;296:1507-1517. (Pubitemid 44465515)
5. Vasen H, Moslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome. J Med Genet. 2007;44(6):353-362.
6. Umar A, Boland C, Terdiman J, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96(4):261-268. (Pubitemid 38256271)
7. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol. 2002;20(4):1043-1048. (Pubitemid 34141849)
8. Cunningham JM, Kim CY, Christensen ER, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001;69(4):780-790. (Pubitemid 32868523)
9. Baudhuin LM, Burgart LJ, Leontovich O, et al. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer. 2005;4(3):255-265. (Pubitemid 41242196)
10. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41(9):664-668. (Pubitemid 39208606)
11. Wang L, Cunningham J, Winters J, et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res. 2003;63(17):5209-5212. (Pubitemid 37139829)
12. Woods MO, Williams P, Careen A, et al. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat. 2007;28:669-373.
13. Chao EC, Velasquez JL, Witherspoon MS, et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat. 2008;29(6):852-860. (Pubitemid 351794136)
14. Gammie AE, Erdeniz N, Beaver J, et al. Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics. 2007;177(2):707-721. (Pubitemid 350005626)
15. Ollila S, Dermadi Bebek D, Jiricny J, et al. Mechanisms of pathogenicity in human MSH2 missense mutants. Hum Mutat. 2008;29(11):1355-1363.
16. Henikoff S, Henikoff JG. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci. 1992;89:10915-10919.
17. Tavtigian S, Deffenbaugh A, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006;43(4):295-305.
18. Mathe E, Olivier M, Kato S, et al. Computational approaches for predicting the biological effect of p53 missense mutations: A comparison of three sequence analysis based methods. Nucleic Acids Res. 2006;34(5):1317-1325.
19. Arnold S, Buchanan DD, Barker M, et al. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Genet. 2009;30(5):757.
20. Quehenberger F, Vasen H, van Houwelingen H. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: Correction for ascertainment. J Med Genet. 2005;42:491-496. (Pubitemid 40847237)
21. Plon S, Eccles D, Easton D, et al. Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29(11): 1282-1291.
22. Watson P, Lynch H. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer. 1993;71(3):677-685. (Pubitemid 23051366)
23. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81(2):214-218. (Pubitemid 29144749)
24. Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123(2):444-449. (Pubitemid 351842032)
25. Kastrinos F, Mukherjee B, Tayob N, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009;302(16):1790-1795.