Seminars in Oncology
Volume 34, Issue 5 , Pages 411-417 , October 2007

Strategies for Identifying Hereditary Nonpolyposis Colon Cancer

  • D. Gareth Evans

      Affiliations

    • Academic Unit of Medical Genetics, Regional Genetics Service, St Mary’s Hospital, Manchester, UK.
    • Corresponding Author InformationAddress correspondence to D. Gareth Evans, MD, FRCP, Professor in Medical Genetics, Department of Clinical Genetics, St. Mary’s Hospital (SM2), Hathersage Road, Manchester M13 OJH, UK.
  • ,
  • Sheila Walsh

      Affiliations

    • Department of Surgery, Trafford General Hospital, Manchester, UK.
  • ,
  • James Hill

      Affiliations

    • Department of Surgery, Manchester Royal Infirmary, Manchester, UK.
  • ,
  • Raymond T. McMahon

      Affiliations

    • Department of Histopathology, Manchester Royal Infirmary, Manchester, UK.
    • Division of Regenerative Medicine, University of Manchester, Manchester, UK.

References 

  1. Parkin DM, Pisani P, Ferlay J. Estimates of the worldwide incidence of eighteen major cancers in 1985. Int J Cancer. 1993;54:594–606
  2. Jemal A, Siegel R, Ward E, et al. Cancer statistics. CA Cancer J Clin. 2006;56:106–130
  3. Hayne D, Brown RSD, McCormack M, et al. Current trends in colorectal cancer: Site, incidence, mortality and survival in England and Wales. Clin Oncol (R Coll Radiol). 2001;13:448–452
  4. Jarvinen H, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 1995;108:1405–1411
  5. Souza RF. A molecular rationale for the how, when and why of colorectal cancer of screening. Aliment Pharmacol Ther. 2001;15:451–462
  6. Hemminki K, Lonnstedt I, Vaittinen P, et al. Estimation of genetic and environmental components in colorectal and lung cancer and melanoma. Genetic Epidemiol. 2001;20:107–116
  7. Schoen RE. Families at risk for colorectal cancer. J Clin Gastroenterol. 2000;31:114–120
  8. Warthin A. Hereditary with reference to carcinoma. Arch Intern Med. 1913;12:546–555
  9. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary non polyposis colon cancer (HNPCC, Lynch syndrome) proposed by the International collaborative group on HNPCC. Gastroenterology. 1999;116:1453–1456
  10. Fuchs CS, Giovannuci EL, Colditz GA, et al. A prospective study of family history and the risk of colorectal cancer. N Engl J Med. 1994;331:1669–1674
  11. Evans DG, Walsh S, Jeacock J, et al. The incidence of hereditary non-polyposis colorectal cancer in a population based study of 1137 consecutive cases of colorectal cancer. Br J Surg. 1997;84:1281–1285
  12. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81:214–218
  13. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997;6:105–110
  14. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colon cancer. Gastroenterology. 2000;118:829–834
  15. Hill J, Walsh S, Evans DG. Screening of patients at high risk of colorectal cancer. Colorectal Dis. 2001;3:308–311
  16. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005;293:1986–1994
  17. Evans DG, Lalloo F, Mak A, et al. Is it time to abandon microsatellite instability as a pre-screen for selecting families for mutation testing for mismatch repair genes?. J Clin Oncol. 2006;24:1960–1962
  18. Park JG, Vasen HF, Park YJ, et al. Suspected HNPCC and Amsterdam criteria II: Evaluation of mutation detection rate, an international collaborative study. Int J Colorectal Dis. 2002;17:109–114
  19. Barnetson RA, Tenesa A, Farrington SM, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006;354:2751–2763
  20. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–5257
  21. Calistri D, Presciuttini S, Buonsanti G, et al. Microsatellite instability in colorectal cancer patients with suspected genetic predisposition. Int J Cancer. 2000;849:87–91
  22. Southey MC, Jenkins MA, Mead L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early onset colorectal cancer. J Clin Oncol. 2005;23:1–6
  23. Wahlberg SS, Schmeits J, Thomas G, et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res. 2002;62:3485–3492
  24. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005;293:1986–1994
  25. Evans DG, Wu CL, Walsh S, et al. Characterisation of hereditary nonpolyposis colon cancer families: population based series of cases. J Natl Cancer Inst. 2001;93:716–717
  26. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2000;18:2193–2200
  27. de Leon MP, Pedroni M, Benatti P, et al. Hereditary colorectal cancer in the general population: From cancer registration to molecular diagnosis. Gut. 1999;45:32–38
  28. Katballe N, Christensen M, Wikman FP, et al. Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. Gut. 2002;50:43–51
  29. Percesepe A, Borghi F, Menigatti M, et al. Molecular screening for hereditary nonpolyposis colorectal cancer: A prospective, population-based study. J Clin Oncol. 2001;19:3944–3950
  30. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851–1860
  31. Kievit W, de Bruin JH, Adang EM, et al. Cost effectiveness of a new strategy to identify HNPCC patients. Gut. 2005;54:97–102
  32. Ramsey SD, Clarke L, Etzioni R, et al. Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer. Ann Intern Med. 2001;135:577–588
  33. Reyes CM, Allen BA, Terdiman JP, et al. Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma: Effectiveness and cost-effectiveness. Cancer. 2002;95:1848–1856
  34. Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296:1479–1487
  35. Marroni F, Pastrello C, Benatti P, et al. A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability. Clin Genet. 2006;69:254–262
  36. Balmana J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006;296:1469–1478
  37. Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66:7810–7817
  38. Ericson KM, Isinger AP, Isfoss BL, et al. Low frequency of defective mismatch repair in a population-based series of upper urothelial carcinoma. BMC Cancer. 2005;5:23
  39. Taylor CF, Charlton RS, Burn J, et al. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA. Hum Mutat. 2003;22:428–433
  40. Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, et al. Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Genet Test. 2005;9:138–146
  41. Bunyan DJ, Eccles DM, Sillibourne J, et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer. 2004;91:1155–1159
  42. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41:664–668
  43. Ramsey SD, Burke W, Clarke L. An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med. 2003;5:353–363

PII: S0093-7754(07)00138-8

doi: 10.1053/j.seminoncol.2007.07.001

Seminars in Oncology
Volume 34, Issue 5 , Pages 411-417 , October 2007