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Surveillance

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Book cover Hereditary Colorectal Cancer

Part of the book series: M.D. Anderson Solid Tumor Oncology Series ((MDA,volume 5))

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Abstract

In Lynch syndrome surveillance aims at prevention of early detection of cancer types observed to occur in significant excess. At present, regular prophylactic examinations have been shown beneficial for colorectal and endometrial cancer, i.e. repeated colonoscopy and endometrial biopsy combined with ultrasonograpy. For other less common cancer types involved, no proven benefit has been shown. The guidelines of identifying Lynch syndrome, the principles of genetic testing, and arranging surveillance are reviewed in this article, also shortly dealing with prophylactic surgery and possible chemoprevention in future.

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References

  1. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996;110:1020–7.

    Article  PubMed  CAS  Google Scholar 

  2. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997;6:105–10.

    Article  PubMed  CAS  Google Scholar 

  3. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81:214–8.

    Article  PubMed  CAS  Google Scholar 

  4. Wilson JMG, Junger G. Principles and practice of screening for disease. Public Health Papers 34. WHO, Geneva; 1968

    Google Scholar 

  5. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2000;18:2193–200.

    PubMed  CAS  Google Scholar 

  6. 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;293:1986–94.

    Article  PubMed  CAS  Google Scholar 

  7. Vasen HF, Watson P, Mecklin J-P, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453–6.

    Article  PubMed  CAS  Google Scholar 

  8. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–8.

    Article  PubMed  CAS  Google Scholar 

  9. 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;354:271–2763.

    Article  Google Scholar 

  10. Engel C, Forberg C, Holinski-Feder E, et al. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2006;118:115–22.

    Article  PubMed  CAS  Google Scholar 

  11. Lerman G, Hughes C, Trock B, et al. Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA. 1999;281:1618–22.

    Article  PubMed  CAS  Google Scholar 

  12. Aktán-Collán K, Mecklin J-P, Järvinen HJ, et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer. 2000;89:44–50.

    Article  PubMed  Google Scholar 

  13. Pylvänäinen K, Kairaluoma M, Mecklin J-P. Compliance and satisfaction with long-term surveillance in Finnish HNPCC families. Fam Cancer. 2006;5:175–8.

    Article  PubMed  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  15. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet. 2005;42:491–6.

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  17. Aarnio M, Mecklin J-P, Aaltonen LA, et al. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995;64:430–3.

    Article  PubMed  CAS  Google Scholar 

  18. de Jong AE, Nagengast FM, Kleibeuker JH, et al. What is the appropriate screening protocol in Lynch syndrome? Fam Cancer. 2006;5:373–8.

    Article  PubMed  Google Scholar 

  19. Renkonen-Sinisalo L, Aarnio M, Mecklin J-P, et al. Surveillance improves survival on colorectal cancer in patients with hereditary nonpolyposis colorectal cancer. Cancer Detect Prev. 2000;24:137–42.

    PubMed  CAS  Google Scholar 

  20. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum. 2002;45:1588–94.

    Article  Google Scholar 

  21. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829–34.

    Article  PubMed  Google Scholar 

  22. Renkonen-Sinisalo L, Kivisaari A, Kivisaari L, et al. Utility of computed tomographic colonography in surveillance for hereditary nonpolyposis colorectal cancer syndrome. Fam Cancer. 2007;6:135–40.

    Article  PubMed  Google Scholar 

  23. Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet. 1999;23:142–4.

    Article  PubMed  CAS  Google Scholar 

  24. Dove-Edvin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer. 2002;94:1708–12.

    Article  Google Scholar 

  25. Rijcken FE, Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2003;91:74–80.

    Article  PubMed  Google Scholar 

  26. Renkonen-Sinisalo L, Bützow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer. 2007;120:821–4.

    Article  PubMed  CAS  Google Scholar 

  27. Renkonen-Sinisalo L, Sipponen P, Aarnio M, et al. No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol. 2002;37:574–7.

    Article  PubMed  CAS  Google Scholar 

  28. Myrhoj T, Andersen M-B, Bernstein I. Screening for urinary tract cancer with urine cytology in HNPCC-families. Fam Cancer. 2007;6:346 (abstr).

    Google Scholar 

  29. Church JM. Prophylactic colectomy in patients with hereditary non-polyposis colorectal cancer. Ann Med. 1996;28:479–82.

    Article  PubMed  CAS  Google Scholar 

  30. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261–9.

    Article  PubMed  CAS  Google Scholar 

  31. Sandler RS, Halabi S, Baron JB. A randomized trial of aspirin to prevent colorectal adenomas with previous colorectal cancer. N Engl J Med. 2003;348:883–90.

    Article  PubMed  CAS  Google Scholar 

  32. Steinbach GD, Lynch PM, Phillips RKS, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med. 2000;342:1946–52.

    Article  PubMed  CAS  Google Scholar 

  33. Lu K, Loose D, Lynch H, et al. Preliminary analysis of a prospective, multi-center endometrial cancer chemoprevention study in women with Lynch syndrome. Fam Cancer. 2007;6:347 (abstr).

    Google Scholar 

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Correspondence to Heikki J. Järvinen .

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Järvinen, H.J., Mecklin, JP. (2010). Surveillance. In: Rodriguez-Bigas, M., Cutait, R., Lynch, P., Tomlinson, I., Vasen, H. (eds) Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-6603-2_18

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  • DOI: https://doi.org/10.1007/978-1-4419-6603-2_18

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  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4419-6602-5

  • Online ISBN: 978-1-4419-6603-2

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