Skip to main content
SpringerLink
Log in

Establishment of a hereditary nonpolyposis colorectal cancer registry

  • Original Contributions
  • Published:
Diseases of the Colon & Rectum

Abstract

INTRODUCTION: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition characterized by early age of onset colorectal cancer, right-sided predominance, excess of synchronous and metachronous colonic neoplasms, and extracolonic cancers. The purpose of this study is to report clinical characteristics of HNPCC families in our registry. METHODS: This is a retrospective review of medical records of patients with a significant history of colorectal cancer and interviews with their families. RESULTS: Three hundred one people with cancer in 40 HNPCC families were identified. In 284 of 301 (94 percent) people, 363 cancers were identified. Colorectal cancer only was identified in 182 people (64 percent) and, in conjunction with extracolonic tumors, in another 31 people (11 percent). Extracolonic cancer alone was noted in 71 people (25 percent). Median age at diagnosis of colorectal cancer was 48 (range, 17–92) years. In patients with documented pathology, right-sided tumors predominated (55 percent), synchronous and metachronous tumors were noted in 33 percent, and synchronous or metachronous adenomas were documented in 51 percent of people. Generational anticipation was also noted. CONCLUSION: This study demonstrates and confirms characteristics that have been described in HNPCC. Namely, early age of onset of colorectal cancer, right-sided predominance, multiple synchronous and metachronous neoplasms, increased extracolonic cancers, and generational anticipation.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Parker SL, Tong T, Bolden S, Wingo PA. Cancer statistics, 1996. CA Cancer J Clin 1996;46:5–27.

    PubMed  Google Scholar 

  2. Ponz de Leon M, Sassatelli R, Sacchetti C,et al. Familial aggregation of tumors in the three year experience of a population-based colorectal cancer registry. Cancer Res 1989;49:4344–8.

    PubMed  Google Scholar 

  3. Mecklin JP, Järvinen H. Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 1986;29:160–4.

    PubMed  Google Scholar 

  4. Westlake PJ, Bryant HE, Huchcroft SA, Sutherland LR. Frequency of hereditary nonpolyposis colorectal cancer in Southern Alberta. Dig Dis Sci 1991;36:1441–7.

    PubMed  Google Scholar 

  5. Aaltonen LA, Sankila R, Mecklin JP,et al. A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total cancer burden. Cancer Detect Prev 1994;18:57–63.

    PubMed  Google Scholar 

  6. Ponz de Leon M. Prevalence of hereditary nonpolyposis colorectal cancer (HNPCC). Ann Med 1994;26:209–14.

    PubMed  Google Scholar 

  7. Albano WA, Lynch HT. Clinical management of hereditary colon cancer. In Lynch PM, Lynch HT, eds. Colon cancer genetics. New York: Van Nostran Reinhold, 1985:99–110.

    Google Scholar 

  8. Lynch PM, Lynch HT. HNPCC: epidemiological and clinical-genetic features. In: Lynch PM, Lynch HT, eds. Colon cancer genetics. New York: Van Nostran Reinhold, 1985:52–98.

    Google Scholar 

  9. Lynch HT, Albano WA, Ruma TA, Schmitz GD, Costello KA, Lynch JF. Surveillance/management of an obligate gene carrier: the cancer family syndrome. Gastroenterology 1983;84:404–8.

    PubMed  Google Scholar 

  10. Lynch HT, Smyrk T, Lynch J. Clinical and molecular genetic aspects of the Lynch syndromes. Semin Colon Rectal Surg 1995;6:38–47.

    Google Scholar 

  11. Lynch HT, Watson P, Lanspa S,et al. Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). Dis Colon Rectum 1988;31:439–44.

    PubMed  Google Scholar 

  12. Fitzgibbons R, Lynch HT, Stanislav G,et al. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg 1987;206:289–95.

    PubMed  Google Scholar 

  13. Vasen HF, Taal BG, Griffioen G,et al. Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. Gut 1994;35:1262–6.

    PubMed  Google Scholar 

  14. Vasen HF. What is hereditary nonpolyposis colorectal cancer (HNPCC). Anticancer Res 1994;14:1613–6.

    PubMed  Google Scholar 

  15. D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ. The clinical and genetic manifestations of hereditary nonpolyposis colorectal cancer. Am J Surg 1995;169:368–72.

    PubMed  Google Scholar 

  16. Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 1995;87:1114–25.

    PubMed  Google Scholar 

  17. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677–87.

    PubMed  Google Scholar 

  18. Vasen HF, Mecklin J-P, Khan PM, Lynch HT. The International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424–5.

    PubMed  Google Scholar 

  19. Bülow S, Bülow C, Nielsen TF, Karlsen L, Moesgaard F. Centralized registration results in improved prognosis in familial adenomatous polyposis. Scand J Gastroenterol 1995;30:989–993.

    PubMed  Google Scholar 

  20. Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995;108:1405–11.

    PubMed  Google Scholar 

  21. Hakala T, Mecklin J-P, Forss M, Jarvinen H, Lehtovirta P. Endometrial carcinoma in the cancer family syndrome. Cancer 1991;68:1656–9.

    PubMed  Google Scholar 

  22. Albano WA, Recabaren JA, Lynch HT,et al. Natural history of hereditary cancer of the breast and colon. Cancer 1982;50:360–3.

    PubMed  Google Scholar 

  23. Mecklin J-P, Jarvinen HJ, Peltokallio P. Cancer family syndrome: genetic analysis of 22 Finnish kindreds. Gastroenterology 1986;90:328–33.

    PubMed  Google Scholar 

  24. Law IP, Herberrnan RN, Oldham RK, Bouzoukis J, Hanson SM, Rhode MC. Familial occurrence of colon and uterine carcinoma and of lymphoproliferative malignancies. Cancer 1977;39:1224–8.

    PubMed  Google Scholar 

  25. Mecklin J-P, Sipponen P, Jarvinen HJ. Histopathology of colorectal carcinomas and adenomas in cancer family syndrome. Dis Colon Rectum 1986;29:849–53.

    PubMed  Google Scholar 

  26. Fishel R, Lescoe MK, Rao MR,et al. The human mutator gene homolog MSH2 and its association with HNPCC. Cell 1993;75:1027–38.

    PubMed  Google Scholar 

  27. Lindblom A, Tannergård P, Werelius B, Nordenskjöld M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colorectal cancer. Nat Genet 1993;5:280–2.

    Google Scholar 

  28. Nicolaides NC, Papadopoulos N, Liu B,et al. Mutations of two PMS homologues in hereditary non polyposis colon cancer. Nature 1994;371:75–80.

    PubMed  Google Scholar 

  29. Leach FS, Nicolaides NC, Papadopoulos N,et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215–25.

    PubMed  Google Scholar 

  30. Bronner CE, Baker SM, Morrison PT,et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258–61.

    PubMed  Google Scholar 

  31. Papadopoulos N, Nicolaides NC, Wei Y,et al. Mutation of a mut L homolog in hereditary colon cancer. Science 1994;263:1625–9.

    PubMed  Google Scholar 

  32. Lynch HT, Richardson JD, Amin M,et al. Variable gastrointestinal and urologic cancers in a Lynch syndrome II kindred. Dis Colon Rectum 1991;34:891–5.

    PubMed  Google Scholar 

  33. Lynch HT, Ens JA, Lynch JF. The Lynch syndrome II and urological malignancies. J Urol 1990;143:24–8.

    PubMed  Google Scholar 

  34. Lynch HT, Voorhees GJ, Lanspa SJ, McGreevy PS, Lynch JF. Pancreatic carcinoma and hereditary nonpolyposis colorectal cancer: a family study. Br J Cancer 1985;52:271–3.

    PubMed  Google Scholar 

  35. Lynch HT, Cavalieri RJ, Lynch JF, Casey MJ. Gynecologic cancer clues to Lynch syndrome II diagnosis: a family report. Gynecol Oncol 1992;44:198–203.

    PubMed  Google Scholar 

  36. Symonds DA, Vickery AL Jr. Mucinous carcinoma of the colon and rectum. Cancer 1976;37:1891–900.

    PubMed  Google Scholar 

  37. Morson BC, Dawson IM. Gastrointestinal pathology. 1st ed. Oxford: Blackwell Scientific, 1972:554.

    Google Scholar 

  38. Lanspa SJ, Lynch HT, Smyrk TC,et al. Colorectal adenomas in the Lynch syndromes-results of a colonoscopy screening program. Gastroenterology 1990;98:1117–22.

    PubMed  Google Scholar 

  39. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer—morphologies, genes and mutations. Mutat Res 1994;310:125–33.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Surgical Oncology and Endoscopy, Roswell Park Cancer Institute, Elm and Carlton Streets, 14263, Buffalo, New York

    Miguel A. Rodríguez-Bigas M.D., Peter H. U. Lee B.S., Linda O'Malley R.N., Thomas K. Weber M.D., Garth R. Anderson Ph.D. & Nicholas J. Petrelli M.D.

  2. Division of Cancer Control & Epidemiology, Roswell Park Cancer Institute, Buffalo, New York

    Okhee Suh Ph.D.

  3. Division of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York

    Garth R. Anderson Ph.D.

Authors
  1. Miguel A. Rodríguez-Bigas M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Peter H. U. Lee B.S.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Linda O'Malley R.N.
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Thomas K. Weber M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Okhee Suh Ph.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Garth R. Anderson Ph.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Nicholas J. Petrelli M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

About this article

Cite this article

Rodríguez-Bigas, M.A., Lee, P.H.U., O'Malley, L. et al. Establishment of a hereditary nonpolyposis colorectal cancer registry. Dis Colon Rectum 39, 649–653 (1996). https://doi.org/10.1007/BF02056944

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02056944

Key words

Search

Navigation