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Surveillance in Lynch Syndrome

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Abstract

The major aim of surveillance in Lynch syndrome is to diagnose malignant or premalignant lesions at the asymptomatic stage by regular checkups, particularly in the large bowel. Therefore, screening for colorectal adenomas and carcinomas by regular colonoscopies is the main topic of the present review. However, it should be remembered, that primary prevention – whether through the use of chemoprevention or the promotion of a healthy life-style may form a significant part of such surveillance in the future. Observational studies indicate that the adenoma carcinoma sequence is the main pathway in the development of colorectal cancer in Lynch syndrome. A colonoscopy every 1–3 years starting at age 20 to 25 years and the removal of observed adenomas is recommended for individuals known to have Lynch syndrome associated mutations. The incidence of colorectal cancer in family branches screened this way is lower than that in past unscreened generations. The screening of other malignancies associated with Lynch syndrome is more complex. Screening for endometrial cancer has recommended previously, but no benefits have been shown in recent studies. The value of screening for other extracolonic cancers remains also uncertain.

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References

  1. J Wijnen PM Khan H Vasen et al. (1997) ArticleTitleHereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mistmatch-repair-gene mutations Am J Human Genet 61 329–35

    Google Scholar 

  2. E Renkonen Y Zhang H Lohi et al. (2003) ArticleTitleAltered expression of MLH1, MSH2 and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer J Clin Oncol 21 3629–37 Occurrence Handle10.1200/JCO.2003.03.181 Occurrence Handle14512394

    Article  PubMed  Google Scholar 

  3. G Lerman C Hughes B Trock et al. (1999) ArticleTitleGenetic testing in families with hereditary nonpolyposis colon cancer JAMA 281 1618–22 Occurrence Handle10.1001/jama.281.17.1618 Occurrence Handle10235155

    Article  PubMed  Google Scholar 

  4. M Ponz de Leon P Benatti Di Gregorio et al. (2004) ArticleTitleGenetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer Br J Cancer 23 882–7 Occurrence Handle10.1038/sj.bjc.6601529

    Article  Google Scholar 

  5. K Aktan-Collan J-P Mecklin HJ Järvinen et al. (2000) ArticleTitlePredictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction Int J Cancer 89 44–50 Occurrence Handle10.1002/(SICI)1097-0215(20000120)89:1<44::AID-IJC8>3.3.CO;2-V Occurrence Handle10719730

    Article  PubMed  Google Scholar 

  6. W Burke G Petersen P Lynch et al. (1997) ArticleTitleRecommendations for follow-up care of individuals with an inherited predisposition to cancer JAMA 11 915–9 Occurrence Handle10.1001/jama.277.11.915

    Article  Google Scholar 

  7. H Järvinen M Aarnio H Mustonen et al. (2000) ArticleTitleControlled 15-year trial on screening for colorectal cancer families with hereditary nonpolyposis colorectal cancer Gastroenterology 118 829–34 Occurrence Handle10784581

    PubMed  Google Scholar 

  8. HF Vasen J-P Mecklin PM Khan HT Lynch (1991) ArticleTitleThe International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC) Dis Colon Rectum 34 424–5 Occurrence Handle10.1007/BF02053699 Occurrence Handle2022152

    Article  PubMed  Google Scholar 

  9. HF Vasen FM Nagengast PM Khan (1995) ArticleTitleInterval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome) Lancet 345 1183–4 Occurrence Handle10.1016/S0140-6736(95)91016-6 Occurrence Handle7723574

    Article  PubMed  Google Scholar 

  10. HT Lynch A Chapelle Particlede la (2003) ArticleTitleHereditary colorectal cancer N Engl J Med 348 919–32 Occurrence Handle10.1056/NEJMra012242 Occurrence Handle12621137

    Article  PubMed  Google Scholar 

  11. G Möslein S Pistorius H-D Saeger HK Schackert (2003) ArticleTitlePreventive surgery for colon cancer in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer syndrome Langenbecks Arch Surg 388 9–16 Occurrence Handle12690475

    PubMed  Google Scholar 

  12. M Aarnio R Sankila E Pukkala et al. (1999) ArticleTitleCancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 214–218 Occurrence Handle10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L Occurrence Handle10188721

    Article  PubMed  Google Scholar 

  13. J Wijnen W Leeuw Particlede H Vasen et al. (1999) ArticleTitleFamilial endometrial cancer in female carriers of MSH6 germline mutations Nat Genet 2 142–4 Occurrence Handle10.1038/13773

    Article  Google Scholar 

  14. M Aarnio J-P Mecklin LA Aaltonen et al. (1995) ArticleTitleLife-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome Int J Cancer 64 430–3 Occurrence Handle8550246

    PubMed  Google Scholar 

  15. A Wagner Y Hendriks EJ Meijers-Heijboer et al. (2001) ArticleTitleAtypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutsch pedigree J Med Genet 38 318–22

    Google Scholar 

  16. HF Vasen (2000) ArticleTitleClinical diagnosis and management of hereditary colorectal cancer syndromes J Clin Oncol 18 IssueID21 Suppl 81S–92S Occurrence Handle11060333

    PubMed  Google Scholar 

  17. HFA Vasen P Watson J-P Mecklin et al. (1994) ArticleTitleThe epidemiology of endometrial cancer in heredtary nonpolyposis colorectal cancer Anticancer Res 14 1675–8 Occurrence Handle7979205

    PubMed  Google Scholar 

  18. D Boks AP Trujillo AC Voogd et al. (2002) ArticleTitleSurvival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer Int J Cancer 102 198–200 Occurrence Handle10.1002/ijc.10667 Occurrence Handle12385019

    Article  PubMed  Google Scholar 

  19. I Dove-Edwin B Dominique S Goff et al. (2002) ArticleTitleThe outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma Cancer 94 1708–12 Occurrence Handle10.1002/cncr.10380 Occurrence Handle11920532

    Article  PubMed  Google Scholar 

  20. J Church C Simmang (2003) ArticleTitlePractice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer) Dis Colon Rectum 8 1001–12

    Google Scholar 

  21. J-P Mecklin HJ Järvinen (1991) ArticleTitleTumor spectrum in cancer family syndrome (Hereditary nonpolyposis colorectal cancer) Cancer 68 1109–12 Occurrence Handle1913482

    PubMed  Google Scholar 

  22. SR Hamilton B Liu E Ramon et al. (1995) ArticleTitleThe molecular basis of Turcot’s syndrome N Engl J Med 332 839–47 Occurrence Handle10.1056/NEJM199503303321302 Occurrence Handle7661930

    Article  PubMed  Google Scholar 

  23. HFA Vasen EACM Sanders BG Taal et al. (1996) ArticleTitleThe risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC) Int J Cancer 65 422–5 Occurrence Handle10.1002/(SICI)1097-0215(19960208)65:4<422::AID-IJC4>3.0.CO;2-Z Occurrence Handle8621220

    Article  PubMed  Google Scholar 

  24. Barana D, van der Klift H, Wijnen J et al. Spectrum of genetic alterations in Muir–Torre syndrome is the same as in HNPCC. Am J Med Genet 2004; 125: 318–9

    Google Scholar 

  25. K Hirano K Yamashita N Yamashita et al. (2002) ArticleTitleNon-Hodgkin’s lymphoma in a patient with probable hereditary nonpolyposis colon cancer Dis Colon Rectum 45 273–9 Occurrence Handle10.1007/s10350-004-6161-9 Occurrence Handle11852345

    Article  PubMed  Google Scholar 

  26. C Soravia H Klift Particlevan der M-A Bründler et al. (2003) ArticleTitleProstate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum Am J of Med Genet 121A 159–62 Occurrence Handle10.1002/ajmg.a.20106

    Article  Google Scholar 

  27. A Müller T Edmonston D Corao et al. (2002) ArticleTitleExclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer Cancer Res 62 1014–9 Occurrence Handle11861375

    PubMed  Google Scholar 

  28. HFA Vasen J Wijnen F Menko et al. (1996) ArticleTitleCancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis Gastroenterology 110 1020–7 Occurrence Handle8612988

    PubMed  Google Scholar 

  29. K Lin M Shashidharan A Thorson et al. (1998) ArticleTitleCumulative incidence of colorectal and extracolonic cancer in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer J Gastrointest Surg 2 67–71 Occurrence Handle10.1016/S1091-255X(98)80105-4 Occurrence Handle9841970

    Article  PubMed  Google Scholar 

  30. JA Baron BF Cole RS Sandler et al. (2003) ArticleTitleA randomized trial of aspirin to prevent colorectal adenomas N Engl J Med 348 891–9 Occurrence Handle10.1056/NEJMoa021735 Occurrence Handle12621133

    Article  PubMed  Google Scholar 

  31. RS Sandler S Halabi JA Baron et al. (2003) ArticleTitleA randomized trial of aspirin to prevent colorectal adenomas in patients with previous colorectal cancer N Engl J Med 348 883–90 Occurrence Handle10.1056/NEJMoa021633 Occurrence Handle12621132

    Article  PubMed  Google Scholar 

  32. RK Phillips MH Wallace PM Lynch et al. (2002) ArticleTitleA randomized, double blind, placebo-controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis Gut 50 857–60 Occurrence Handle10.1136/gut.50.6.857 Occurrence Handle12010890

    Article  PubMed  Google Scholar 

  33. R Benamouzig J Deyra A Martin et al. (2003) ArticleTitleDaily soluble aspirin and prevention of colorectal adenoma recurrence: one-year results of the APACC trial Gastroenterology 125 328–36 Occurrence Handle10.1016/S0016-5085(03)00887-4 Occurrence Handle12891533

    Article  PubMed  Google Scholar 

  34. Y Hendriks A Wagner H Morreau et al. (2004) ArticleTitleCancer risk in hereditary non polyposis colorectal cancer due to MSH6 mutations; impact on counselling and surveillance Gastroenterology 127 IssueID1 17–25 Occurrence Handle10.1053/j.gastro.2004.03.068 Occurrence Handle15236168

    Article  PubMed  Google Scholar 

  35. J Kim C Hee A Seon et al. (2001) ArticleTitlehMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer Cancer Detect Prev 25 503–10 Occurrence Handle12132870

    PubMed  Google Scholar 

  36. Cappel Nederveen Particlede Vos tot E Buskens Duijvendijk van et al. (2003) ArticleTitleDecision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect Gut 52 1752–5 Occurrence Handle10.1136/gut.52.12.1752 Occurrence Handle14633956

    Article  PubMed  Google Scholar 

  37. S Syngal JC Weeks D Schrag et al. (1998) ArticleTitleBenefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations Ann Intern Med 129 787–96 Occurrence Handle9841584

    PubMed  Google Scholar 

  38. PA Goldberg MV Madden C Harocopos et al. (1998) ArticleTitleIn a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer Dis Colon Rectum 41 1250–5 Occurrence Handle9788388

    PubMed  Google Scholar 

  39. HFA Vasen M Ballegooijen Particlevan E Buskens et al. (1998) ArticleTitleA cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers Cancer 82 1632–7 Occurrence Handle10.1002/(SICI)1097-0142(19980501)82:9<1632::AID-CNCR6>3.0.CO;2-C Occurrence Handle9576281

    Article  PubMed  Google Scholar 

  40. S Ramsey L Clarke R Etzioni et al. (2001) ArticleTitleCost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer Ann Intern Med 135 577–88 Occurrence Handle11601929

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Surgery, Jyväskylä Central Hospital, 40620, Jyväskylä, Finland

    Jukka-Pekka Mecklin

  2. Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland

    Heikki J. Järvinen

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  1. Jukka-Pekka Mecklin
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  2. Heikki J. Järvinen
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Correspondence to Jukka-Pekka Mecklin.

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Mecklin, JP., Järvinen, H.J. Surveillance in Lynch Syndrome. Familial Cancer 4, 267–271 (2005). https://doi.org/10.1007/s10689-005-1475-x

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  • DOI: https://doi.org/10.1007/s10689-005-1475-x

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