Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma

World Journal of Gastroenterology

Volumn 10, Issue 18, 2004, Pages 2647-2651

  Liu, Shan Run ^a   Zhao, Bo ^a   Wang, Zhen Jun ^a   Wan, Yuan Lian ^a   Huang, Yan Ting ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT;

ADULT; ARTICLE; BLOOD SAMPLING; CANCER CLASSIFICATION; CANCER SCREENING; CANCER SUSCEPTIBILITY; CHINESE; CLINICAL FEATURE; COLORECTAL CANCER; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISMATCH REPAIR; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 4544375906     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v10.i18.2647     Document Type: Article

References (27)

1. Stephenson BM, Finan PJ, Gascoyne J, Garbett F, Murday VA, Bishop DT. Frequency of familial colorectal cancer. Br J Surg 1991; 78: 1162-1166
2. Wagner A, Tops C, Wijnen JT, Zwinderman K, Meer C, Kets M, Niermeijier MF, Klinjin JGM, Tibben A, Vasen HFA, Meijers-Heijboer H. Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH5 mutation. J Med Genet 2002; 39: 833-837
3. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1994; 77: 167
4. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75: 1215-1225
5. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergård P, Bollag RJ, Godwin AR, Ward DC, Nordenskjld M, Fishel R, Kolodner R, Liskay RM. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994; 368: 258-261
6. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomäki P, Mecklin JP, Chapelle A, Kinzler KW, Vogelstein B. Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263: 1625-1629
7. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, Chapelle A, Vogelstein B, Kinzler KW. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371: 75-80
8. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, Yuasa Y. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997; 57: 3920-3923
9. Peltomaki P, Gao X, Mecklin JP. Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs shared predisposing mutations. Fam Cancer 2001; 1: 9-15
10. Peltomaki P, Vasen HE. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The international collaborative group on hereditary nonpolyposis colorectal cancer. Gastroenterology 1997; 113: 1146-1158
11. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34: 424-425
12. Baba S. Hereditary nonpolyposis colorectal cancer: an update. Dis Colon Rectum 1997; 40(10 Suppl): S86-S95
13. Miller SA, Dykes DD, Polesky HE. A simple saltingout procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
14. Weber TK, Conlon W, Petrelli NJ, Rodriguez-Bigas M, Keitz B, Pazik J, Farrell C, O'Malley L, Oshalim M, Abdo M, Anderson G, Stoler D, Yandell D. Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997; 57: 3798-3803
15. Gross E, Arnold N, Goette J, Schwarz-Boeger U, Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum Genet 1999; 105: 72-78
16. Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J. Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 2001; 68: 118-127
17. Zhao B, Wang ZJ, Xu YF, Wan YL, Li P, Huang YT. Report of 16 kindreds and one kindred with hMLH1 germline mutation. World J Gastroenterol 2002; 8: 263-266
18. Pensotti V, Radice P, Presciuttini S, Calistri D, Gazzoli I, Grimalt Perez A, Mondini P, Buonsanti G, Sala P, Rossetti C, Ranzani GN, Bertario L, Pierotti MA. Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. Genes Chromosomes Cancer 1997; 19: 135-142
19. Tomlinson IP, Beck NE, Homfray T, Harocopos CJ, Bodmer WF. Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet 1997; 34: 39-42
20. Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, Halling KC, McDonnell SK, Schaid DJ, Walsh Vockley C, Kubly V, Nelson H, Michels VV, Thibodeau SN. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001; 69: 780-790
21. Fitzgibbons RJ Jr, Lynch HT, Stanislav GV, Watson PA, Lanspa SJ, Marcus JN, Smyrk T, Kriegler MD, Lynch JF. Recognition and treatment of patients with hereditary nonpoyposis colon cancer (Lynch syndromes I and II). Ann Surg 1987; 206: 289-295
22. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 1997; 93: 84-99
23. Lynch HT, Richardson JD, Amin M, Lynch JF, Cavalieri RJ, Bronson E, Fusaro RM. Variable gastrointestinal and urologic cancers in a Lynch syndrome II kindred. Dis Colon Rectum 1991; 34: 891-895
24. Hakala T, Mecklin JP, Forss M, Jarvinen H, Lehtovirta P. Endometrial carcinoma in the cancer family syndrome. Cancer 1991; 68: 1656-1659
25. Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999; 36: 97-102
26. Park YJ, Shin KH, Park JG. Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea. Clin Cancer Res 2000; 6: 2994-2998
27. Yuan Y, Han HJ, Zheng S, Park JG. Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. Dis Colon Rectum 1998; 41: 434-440