Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China

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참고문헌 (34)

1. Lynch, H. T, "Hereditary nonpolyposis colorectal cancer (Lynch syndrome): An updated review", Cancer, 78, pp.1149~1167 (1996)
2. Lynch, H. T, "Genetic susceptibility to non-polyposis colorectal cancer", J. Med. Genet, 36, pp.801~818 (1999)
3. Ricciardiello, L, "Lynch syndrome (hereditary non-polyposis colorectal cancer): Current concepts and approaches to management", Curr. Gastroenterol. Rep, 70, pp.412~420 (2005)
4. Lynch, H. T, "Hereditary colorectal cancer", New Engl. J. Med, 348, pp.919~932 (2003)
5. Peltomaki, P, "Mutations associated with HNPCC predisposition - Update of ICG-HNPCC", INSiGHT mutation database, 2004, pp.20, 269~276
6. Wijnen, J. T, "Clinical findings with implications for genetic testing in families with clustering of colorectal cancer", New Engl. J. Med, 339, pp.511~518 (1998)
7. Wei, W. Q, "Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT", J. Bioinform. Comp. Biol, 8(suppl 1), pp.111~125 (2010)
8. Sheng, J. Q, "Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with Hereditary non-polyposis colorectal cancer", Chinese J. Digest. Dis, 7, pp.197~205 (2006)
9. Chew, M. H, "Phenotypic characteristics of hereditary non-polyposis colorectal cancer by the Amsterdam criteria: an Asian perspective", ANZ J. Surg, 78, pp.556~560 (2008)
10. Cai, S. J, "Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer", World J. Gastroenterol, 9, pp.284~287 (2003)
11. Young Mee Kim, "Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea", BMB reports, 43(10), pp.693~697 (2010), 생화학분자생물학회
12. Mangold, E, "Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer", Int. J. Cancer, 116, pp.692~702 (2005)
13. Konishi, M, "Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer", Gastroenterology, 111, pp.307~317 (1996)
14. Banno, K, "Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals", Cancer Genet. Cytogenet, 155, pp.92~ (2004)
15. Kim, J. C, "Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients", Fam. Cancer, 34, pp.129~137 (2004)
16. Chen, C. H, "Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: report of two families in Taiwan", J. Formos. Med. Assoc, 100, pp.269~273 (2001)
17. Fan, Y, "Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population", Cancer Genet. Cytogenet, 170, pp.121~128 (2006)
18. Zhang, Y, "Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China", Int. J. Cancer, 119, pp.2592~2596 (2006)
19. Raevaara, T. E, "Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1", Gastroenterology, 129, pp.537~549 (2005)
20. Trojan, J, "Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system", Gastroenterology, 122, pp.211~219 (2002)
21. Kondo, E, "A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations", Cancer Res, 63, pp.3302~3308 (2003)
22. Marais, G, "Synonymous codon usage, accuracy of translation, and gene length in caenorhabditis elegans", J. Mol. Evol, 52, pp.275~280 (2001)
23. Takahashi, M, "Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays", Cancer Res, 67, pp.4595~4604 (2007)
24. Campbell, P. T, "Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors", Gut, 580, pp.661~667 (2009)
25. Nejda, N, "A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer", Cancer Genet. Cytogenet, 193, pp.71~77 (2009)
26. Bagnoli, S, "Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. Inflamm", Bowel Dis, 10, pp.705~708 (2004)
27. Mathonnet, G, "Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia", Br. J. Haematol, 123, pp.45~48 (2003)
28. An, Y, "Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population", Lung Cancer, 59, pp.164~170 (2008)
29. Fredriksson, H, "Identification of germline MLH1 alterations in familial prostate cancer", Eur. J. Cancer, 42, pp.2802~2806 (2006)
30. Raptis, S, "MLH1 -93G＞A promoter polymorphism and the risk of microsatellite- unstable colorectal cancer", J. Natl. Cancer I, 99, pp.463~474 (2007)
31. Allan, J. M, "MLH1 −93G＞A promoter polymorphism and risk of mismatch repair deficient colorectal cancer", Intl. J. Cancer, 123, pp.2456~2459 (2008)
32. Zhong, X, "A single nucleotide substitution (−107C→G) in the hMLH1 promoter found in colorectal cancer population reduces transcriptional activity", Biochem. Genet, 45, pp.671~681 (2007)
33. Green, R, "Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred", Clin. Genet, 64, pp.220~227 (2003)
34. Lee, S. C, "Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia", Clin. Genet, 68, pp.137~145 (2005)

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