Abstract
A polymorphism in hMSH2 gene has been associated with an increased susceptibility to develop colorectal cancer (CRC). Here we show that it is a genetic risk factor for CRC in the Spanish population. However, its presence does not apparently affect hMSH2 function. © 2000 Cancer Research Campaign
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Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L, Mecklin J-P, Järvinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, Vogelstein B and de la Chapelle A (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260: 812–816
Brentnall TA, Rubin CE, Crispin DA, Stevens A, Batchelor RH, Haggitt RC, Bronner MP, Evans JP, McCahill LE, Bilir N, Boland R and Rabinovitch PS (1995) A germline substitution in the human MSH2 gene is associated with high-grade dysplasia and cancer in ulcerative colitis. Gastroenterology 109: 151–155
Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M and Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027–1038
Goessl C, Plaschke J, Pistorius S, Hahn M, Frank S, Hampl M, Görgens H, Koch R, Saeger H-D and Schacker HK (1997) An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer. Eur J Cancer 33: 1869–1874
Hall NR, Taylor GR, Finan PJ, Kolodner RD, Bodmer WF, Cottrell SE, Frayling I and Bishop DT (1994 a) Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2. Eur J Cancer 30A: 1550–1552
Hall NR, Finan PJ, Ward B, Turner G and Bishop DT (1994 b) Genetic susceptibility to colorectal cancer in patients under 45 years of age. Br J Surg 81: 1485–1489
Ionov Y, Peinado MA, Malkoshyan S, Shibata D and Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanisms for colonic carcinogenesis. Nature 363: 558–561
Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomäki P, de la Chapelle A, Hamilton SR, Vogelstein B and Kinzler KW (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2: 169–174
Tòrtola S, Marcuello E, Gonzalez I, Reyes G, Arribas R, Aiza G, Sancho FJ, Peinado MA and Capella G (1999) p53 and K- ras mutations correlate with tumor aggressiveness but are not of routine prognostic value in colorectal cancer. J Clin Oncol 17: 1375–1381
Xia L, Shen W, Ritacca F, Mitri A, Madlensky L, Berk T, Cohen Z, Gallinger S and Bapat B (1996) A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis. Cancer Res 56: 2289–2292
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Palicio, M., Blanco, I., Tórtola, S. et al. Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer. Br J Cancer 82, 535–537 (2000). https://doi.org/10.1054/bjoc.1999.0959
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DOI: https://doi.org/10.1054/bjoc.1999.0959
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