Preliminary results of mismatch repair deficiency screening via immunohistochemical staining in young Asian colorectal cancers

Proceedings of Singapore Healthcare

Volumn 19, Issue 1, 2010, Pages 3-11

  Koh, Poh Koon ^a   Chew, Min Hoe ^a   Tan, Yan Sheng ^b   Lim, Kiat Hon ^a   Loi, Carol ^a   Tang, Choong Leong ^a   Eu, Kong Weng ^a  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Asian; HNPCC; Immunohistochemistry; Young colorectal cancers

Indexed keywords

EID: 84872205079     PISSN: 20101058     EISSN: None     Source Type: Journal    
DOI: 10.1177/201010581001900102     Document Type: Article

References (30)

1. Aaltonen LA, Salovaara R, Kristo P et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998;338(21):1481-7.
2. Lamberti C, Mangold E, Pagenstecher C et al. Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. Digestion. 2006;74(1):58-67.
3. Pinol V, Castells A, Andreu M Gastrointestinal Oncology Group of the Spanish Gastroenterological Association et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005;293(16):1986-94.
4. Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst. 1995;87(15):1114-25.
5. Papadopoulos N, Lindblom A. Molecular basis of HNPCC: mutations of MMR genes. Hum Mutat. 1997;10(2):89-99.
6. Papadopoulos N, Nicolaides NC, Wei YF et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263(5153):1625-9.
7. Bronner CE, Baker SM, Morrison PT et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994;368(6468):258-61.
8. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1994;77(1):167.
9. Leach FS, Nicolaides NC, Papadopoulos N et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75(6):1215-25.
10. Akiyama Y, Sato H, Yamada T et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 1997;57(18):3920-3.
11. Nicolaides NC, Papadopoulos N, Liu B et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371(6492):75-80.
12. Aaltonen LA, Peltomaki P, Mecklin JP et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res. 1994;54(7):1645-8.
13. Aarnio M, Sankila R, Pukkala E et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Inter J Cancer 1999;81(2):214-8.
14. Watson P, Riley B. The tumor spectrum in the Lynch syndrome. Fam Cancer. 2005;4(3):245-8.
15. Watson P, Lynch HT. Cancer risk in mismatch repair gene mutation carriers. Fam Cancer. 2001;1(1):57-60.
16. Vasen HF, Wijnen JT, Menko FH et al Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996;110(4):1020-7.
17. Kievit W, de Bruin JH, Adang EM et al. Current clinical selection strategies for identification of hereditary nonpolyposis colorectal cancer families are inadequate: a meta-analysis. Clinical Genet. 2004;65(4):308-16.
18. Wang XL, Yuan Y, Zhang SZ, Cai SR, Huang YQ, Jiang Q, Zheng S. Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. World J Gastroenterol. 2006;12(25):4074-7.
19. Chew MH, Koh PK, Ng KH, Lim JF, Ho KS, Ooi BS, Tang CL, Eu KW. Phenotypic characteristics of hereditary non-polyposis colorectal cancer by the Amsterdam criteria: an Asian perspective. ANZ Journal of Surgery. 2008;78(7):556-60.
20. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260(5109):816-9.
21. Parc Y, Boisson C, Thomas G, Olschwang S. Cancer risk in 348 French MSH2 or MLH1 gene carriers. J Med Genet. 2003;40(3):208-13.
22. Goh HS, Wong J. The Singapore Polyposis Registry. Ann Acad Med Singapore. 1992;21(2):290-3.
23. Greene FL. Current TNM staging of colorectal cancer. Lancet Oncol. 2007;8(7):572-3.
24. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453-6.
25. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Anticancer Res. 1994;14(4B):1661-4
26. Rodriguez-Bigas MA, Boland CR, Hamilton SR et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997;89(23):1758-62.
27. Yap HL, Chieng WS, Lim JR, Lim RS, Soo R, Guo J, Lee SC. Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore. Fam Cancer. 2008;8(2):85-94.
28. Chaves P, Cruz C, Lage P et al. Immunohistochemical detection of mismatch repair gene proteins as a useful tool for the identification of colorectal carcinoma with the mutator phenotype. J Pathol. 2000;191(4):355-60.
29. Cawkwell L, Gray S, Murgatroyd H et al. Choice of management strategy for colorectal cancer based on a diagnostic immunohistochemical test for defective mismatch repair. Gut. 1999;45(3):409-15.
30. 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):780-90.