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ORIGINAL ARTICLE

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

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Pages 746-753 | Received 28 Jul 2006, Published online: 08 Jul 2009

References

  • Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003; 348: 919–32
  • Ponz de Leon M, Benatti P, Borghi F, Pedroni M, Scarselli A, Di Gregorio C, et al. Aetiology of colorectal cancer and relevance of monogenic inheritance. Gut 2004; 53: 115–22
  • Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes and historical perspectives. J Natl Cancer Inst 1995; 87: 1114–25
  • Frayling IM. Microsatellite instability. Gut 1999; 45: 1–4
  • de la Chapelle A. Microsatellite instability. N Engl J Med 2003; 349: 209–10
  • Ponz de Leon M, Antonioli A, Ascari A, Zanghieri G, Sacchetti C. Incidence and familial occurrence of colorectal cancer and polyps in a health-care district of Northern Italy. Cancer 1987; 60: 2848–59
  • Ponz de Leon M, Sassatelli R, Scalmati A, Di Gregorio C, Fante R, Zanghieri G, et al. Descriptive epidemiology of colorectal cancer in Italy: the 6-year experience of a specialised registry. Eur J Cancer 1993; 29A: 367–71
  • Ponz de Leon M, Benatti P, Pedroni M, Sassatelli R, Roncucci L. Risk of cancer revealed by follow-up of families with hereditary non-polyposis colorectal cancer: a population-based study. Int J Cancer 1993; 55: 202–7
  • Caluseriu O, Di Gregorio C, Lucci-Cordisco E, Santarosa M, Trojan J, Brieger A, , et al. A founder MLH1 mutation in families from the districts of Modena and Reggio Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability. J Med Genet 2004;41: e34 (www.jmedgenet.com/cgi/content/full/41/3/e34)
  • Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately one percent in Ashkenazi Jews. N Engl J Med 1997; 11: 198–200
  • Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 2004; 291: 718–24
  • Benatti P, Roncucci L, Ganazzi D, Percesepe A, Di Gregorio C, Pedroni M, et al. Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer. Int J Cancer 2001; 95: 323–8
  • Ponz de Leon M, Benatti P, Di Gregorio C, Pedroni M, Losi L, Genuardi M, et al. Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer 2004; 90: 882–7
  • ICD-O. International Classification of Diseases for Oncology. In: Rilke F. Istopatologia. WHO 1983;5:1–121.
  • Hutter RVP, Sobin LH. A universal staging system for cancer of the colon and rectum. Let there be light. Arch Pathol Lab Med 1986; 110: 367–8
  • Benatti P, Sassatelli R, Roncucci L, Pedroni M, Fante R, Di Gregorio C, et al. Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with “suspected HNPCC”. A population-based study in Northern Italy. Int J Cancer 1993; 54: 371–7
  • Vasen HFA, 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: 1453–6
  • Ponz de Leon M, Pedroni M, Benatti P, Percesepe A, Di Gregorio C, Foroni M, et al. Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. Gut 1999; 45: 32–8
  • Pedroni M, Sala E, Scarselli A, Borghi F, Menigatti M, Benatti P, et al. Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis. Cancer Res 2001; 61: 896–9
  • Genuardi M, Viel A, Bonora D, Capozzi E, Bellacosa A, Leonardi F, et al. Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. Hum Genet 1998; 109: 15–20
  • Viel A, Petronzelli F, Della Puppa L, Lucci-Cordisco E, Fornasarig M, Pucciarelli S, et al. Different molecular mechanisms underlie genomic deletions in the MLH1 gene. Hum Mut 2002; 20: 368–74
  • Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958; 53: 457–81
  • Peto R, Pike MC, Armitage P, Breslow NE, Cox DR, Howard SV, et al. Design and analysis of randomized clinical trials requiring prolonged observation of each patient. Br J Cancer 1977; 35: 585–612
  • Peltomäki 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
  • Bülow S. Results of national registration of familial adenomatous polyposis. Gut 2003; 52: 742–6
  • Jonsson S, Thorsteinsdottir U, Gudbjartsson DF, Jonsson HH, Kristjansson K, Arnason S, et al. Familial risk of lung carcinoma in the Icelandic population. JAMA 2004; 292: 2977–83
  • Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1995; 1: 1203–6
  • Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, et al. 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
  • Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, et al. The founder mutation MSH2* G(C in an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet ;71 1906; 2002: 1395–412
  • Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 1993; 104: 1535–49
  • Lynch HT, Watson P, Lanspa SJ, Marcus J, Smyrk T, Fitzgibbons RJ, Jr, et al. Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndrome I and II). Dis Col Rectum 1988; 31: 439–44
  • Mecklin JP, Järvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 1991; 68: 1109–12
  • Wheeler JMD, Bodmer WF. DNA mismatch repair genes and colorectal cancer. Gut 2000; 47: 148–53
  • Grady WM. Genetic testing for high-risk colon cancer patients. Gastroenterology 2003; 124: 1574–94
  • Grady WM. Molecular basis for subdividing hereditary colon cancer. Gut 2005; 54: 1676–8
  • Mecklin JP, Jarvinen HJ. Surveillance in Lynch syndrome. Familial Cancer 2005; 4: 267–71
  • Woods MO, Hyde AJ, Curtis FK, Stuckless S, Green JS, Pollett AF, et al. High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res 2005; 11: 6853–61

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