Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  Hu, Fulan ^a   Li, Dandan ^a   Wang, Yibaina ^a   Yao, Xiaoping ^a   Zhang, Wencui ^a   Liang, Jing ^a   Lin, Chunqing ^a   Ren, Jiaojiao ^a   Zhu, Lin ^a   Wu, Zhiwei ^a   Li, Shuying ^a   Li, Ye ^a   Zhao, Xiaojuan ^a   Cui, Binbin ^a   Dong, Xinshu ^a   Tian, Suli ^a   Zhao, Yashuang ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ADULT; ARTICLE; CHINA; COLON CANCER; COLORECTAL CANCER; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HMLH1 GENE; HMSH2 GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; RECTUM CANCER; SINGLE STRAND CONFORMATION POLYMORPHISM; SOMATIC MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA; ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; CHINA; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HUMANS; INDEL MUTATION; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASM STAGING; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR BURDEN;

EID: 84875715080     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0060233     Document Type: Article

References (51)

1. Cui BB, Liu YL, He H, Wu SL, Sun XW, et al. (2007) Morbidity trends for colorectal carcinoma in the Nangang District of Harbin from 1992-2005. World Chinese Journal of Digestology 15: 2442-2446.
2. Fearon ER, Vogelstein B, (1990) A genetic model for colorectal tumorigenesis. Cell 61: 759-767.
3. Chung DC, Rustgi AK, (2003) The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 138: 560-570.
4. Aaltonen LA, Peltomaki P, (1994) Genes involved in hereditary nonpolyposis colorectal carcinoma. Anticancer Res 14: 1657-1660.
5. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, et al. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027-1038.
6. Jenkins MA, Baglietto L, Dowty JG, Van Vliet CM, Smith L, et al. (2006) Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 4: 489-498.
7. Yuen ST, Chan TL, Ho JW, Chan AS, Chung LP, et al. (2002) Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene 21: 7585-7592.
8. Jin HY, Liu X, Li VK, Ding Y, Yang B, et al. (2008) Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer. BMC Cancer 8: 44.
9. Huang YQ, Yuan Y, Ge WT, Hu HG, Zhang SZ, et al. (2010) Comparative features of colorectal and gastric cancers with microsatellite instability in Chinese patients. J Zhejiang Univ Sci B 11: 647-653.
10. Yan HL, Hao LQ, Jin HY, Xing QH, Xue G, et al. (2008) Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal. Cancer Sci 99: 770-780.
11. McClellan J, King MC, (2010) Genetic heterogeneity in human disease. Cell 141: 210-217.
12. Miyaki M, Seki M, Okamoto M, Yamanaka A, Maeda Y, et al. (1990) Genetic changes and histopathological types in colorectal tumors from patients with familial adenomatous polyposis. Cancer Res 50: 7166-7173.
13. Ramensky V, Bork P, Sunyaev S, (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900.
14. Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, et al. (2008) Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 29: 852-860.
15. Cotton RG, Scriver CR, (1998) Proof of "disease causing" mutation. Hum Mutat 12: 1-3.
16. Isidro G, Matos S, Goncalves V, Cavaleiro C, Antunes O, et al. (2003) Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families. Hum Mutat 22: 419-420.
17. Kowalski LD, Mutch DG, Herzog TJ, Rader JS, Goodfellow PJ, (1997) Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers. Genes Chromosomes Cancer 18: 219-227.
18. Fredriksson H, Ikonen T, Autio V, Matikainen MP, Helin HJ, et al. (2006) Identification of germline MLH1 alterations in familial prostate cancer. Eur J Cancer 42: 2802-2806.
19. Fan Y, Liu X, Zhang H, Dai J, Zhang X, et al. (2006) Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population. Cancer Genet Cytogenet 170: 121-128.
20. Buerstedde JM, Alday P, Torhorst J, Weber W, Muller H, et al. (1995) Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 32: 909-912.
21. Fan Y, Wang W, Zhu M, Zhou J, Peng J, et al. (2007) Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 13: 7515-7521.
22. Farrington SM, Lin-Goerke J, Ling J, Wang Y, Burczak JD, et al. (1998) Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet 63: 749-759.
23. Joshi AD, Corral R, Siegmund KD, Haile RW, Le Marchand L, et al. (2009) Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. Carcinogenesis 30: 472-479.
24. Raptis S, Mrkonjic M, Green RC, Pethe VV, Monga N, et al. (2007) MLH1-93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst 99: 463-474.
25. Yu JH, Bigler J, Whitton J, Potter JD, Ulrich CM, (2006) Mismatch repair polymorphisms and colorectal polyps: hMLH1-93G>A variant modifies risk associated with smoking. Am J Gastroenterol 101: 1313-1319.
26. Kim JC, Roh SA, Koo KH, Ka IH, Kim HC, et al. (2004) Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients. Fam Cancer 3: 129-137.
27. Nomura S, Sugano K, Kashiwabara H, Taniguchi T, Fukayama N, et al. (2000) Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Biochem Biophys Res Commun 271: 120-129.
28. Cirulli ET, Goldstein DB, (2010) Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11: 415-425.
29. Seton-Rogers S, (2012) Cancer genomics: Finding a rare variant. Nat Rev Cancer 12: 1.
30. Jacob S, Praz F, (2002) DNA mismatch repair defects: role in colorectal carcinogenesis. Biochimie 84: 27-47.
31. Wei W, Liu L, Chen J, Jin K, Jiang F, et al. (2010) Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database. J Bioinform Comput Biol 8Suppl 1: 111-125.
32. Abe Y, Masuda H, (2000) Genetic alterations of sporadic colorectal cancer with microsatellite instability, especially characteristics of primary multiple colorectal cancers. J Surg Oncol 74: 249-256.
33. Jeong SY, Shin KH, Shin JH, Ku JL, Shin YK, et al. (2003) Microsatellite instability and mutations in DNA mismatch repair genes in sporadic colorectal cancers. Dis Colon Rectum 46: 1069-1077.
34. Senba S, Konishi F, Okamoto T, Kashiwagi H, Kanazawa K, et al. (1998) Clinicopathologic and genetic features of nonfamilial colorectal carcinomas with DNA replication errors. Cancer 82: 279-285.
35. Shitoh K, Konishi F, Miyaki M, Iijima T, Furukawa T, et al. (2000) Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability. J Clin Pathol 53: 841-845.
36. Akiyama Y, Iwanaga R, Ishikawa T, Sakamoto K, Nishi N, et al. (1996) Mutations of the transforming growth factor-beta type II receptor gene are strongly related to sporadic proximal colon carcinomas with microsatellite instability. Cancer 78: 2478-2484.
37. Chaksangchaichot P, Punyarit P, Petmitr S, (2007) Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer. J Cancer Res Clin Oncol 133: 65-70.
38. Yamada K, Zhong X, Kanazawa S, Koike J, Tsujita K, et al. (2003) Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene. Oncol Rep 10: 859-866.
39. Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, et al. (2006) Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354: 2751-2763.
40. Bai YQ, Akiyama Y, Nagasaki H, Lu SL, Arai T, et al. (1999) Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds. Int J Cancer 82: 512-515.
41. Miyaki M, Konishi M, Muraoka M, Kikuchi-Yanoshita R, Tanaka K, et al. (1995) Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. J Mol Med (Berl) 73: 515-520.
42. Lu SL, Akiyama Y, Nagasaki H, Nomizu T, Ikeda E, et al. (1996) Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations. Jpn J Cancer Res 87: 279-287.
43. Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Onda A, et al. (1996) Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 111: 307-317.
44. Nakahara M, Yokozaki H, Yasui W, Dohi K, Tahara E, (1997) Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Cancer Epidemiol Biomarkers Prev 6: 1057-1064.
45. Yap HL, Chieng WS, Lim JR, Lim RS, Soo R, et al. (2009) Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore. Fam Cancer 8: 85-94.
46. Nilbert M, Wikman FP, Hansen TV, Krarup HB, Orntoft TF, et al. (2009) Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. Fam Cancer 8: 75-83.
47. Rubio-Del-Campo A, Salinas-Sanchez AS, Sanchez-Sanchez F, Gimenez-Bachs JM, Donate-Moreno MJ, et al. (2008) Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma. BJU Int 102: 504-509.
48. Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, et al. (2008) The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC Med Genet 9: 52.
49. Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, et al. (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129: 537-549.
50. Tinat J, Baert-Desurmont S, Latouche JB, Vasseur S, Martin C, et al. (2008) The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome. Fam Cancer 7: 339-340.
51. Sheng JQ, Fu L, Sun ZQ, Huang JS, Han M, et al. (2008) Mismatch repair gene mutations in Chinese HNPCC patients. Cytogenet Genome Res 122: 22-27.