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Les nouveautés dans les formes héréditaires des cancers colorectaux

New trends in hereditary colorectal cancers

  • Dossier Thématique / Thematic File
  • Published:
Côlon & Rectum

Résumé

Des progrès très significatifs ont été réalisés au cours des deux dernières décennies dans le domaine de l’oncogénétique digestive et notamment des formes héréditaires des cancers colorectaux. Ils sont abordés dans cet article et sont dominés par la description récente d’une nouvelle entité, la polypose adénomateuse associée à MYH, et par l’amélioration significative de nos connaissances relatives aux différents aspects du syndrome de Lynch: stratégie diagnostique, corrélations phénotype-génotype, mutations causales, prise en charge…

Abstract

This review will be focused on the recent advances in the field of hereditary colorectal cancer syndromes. They are dominated by the identification of the new entity called « MYH-associated polyposis » and by significant advances in different aspects of Lynch syndrome: diagnosis, molecular basis, phenotypic-genotypic correlations, surveillance…

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Références

  1. Buecher B, Groupe génétique et cancer, Fédération nationale des centres de lutte contre le cancer (2007) Les polyposes adénomateuses associées à MYH. Gastroenterol Clin Biol 31:775–778

    Article  PubMed  Google Scholar 

  2. Hearle N, Schumacher V, Menko FH, et al (2006) Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 6:3209–3215

    Article  CAS  Google Scholar 

  3. Giardiello FM, Trimbath JD (2006) Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4:408–415

    Article  PubMed  Google Scholar 

  4. Buecher B, Bézieau S, Dufilhol C, et al (2007) Les polypes festonnés colorectaux: une entité revisitée. Gastroenterol Clin Biol 31:39–54

    Article  PubMed  Google Scholar 

  5. Olschwang S, Bonaïti C, Feingold J, et al (2004) Identification et prise en charge du syndrome HNPCC (hereditary non-polyposis colon cancer), prédisposition héréditaire aux cancers du côlon, du rectum et de l’utérus. Bull Cancer 91:303–315

    PubMed  Google Scholar 

  6. Lu KH, Schorge JO, Rodabaugh KJ, et al (2007) Prospective determination of prevalence of Lynch syndrome in young women with endometrial cancer. J Clin Oncol 25:5158–164

    Article  CAS  PubMed  Google Scholar 

  7. Garg K, Soslow RA (2009) Lynch syndrome (hereditary nonpolyposis colorectal cancer) and endometrial carcinoma. J Clin Pathol 62:679–684

    Article  CAS  PubMed  Google Scholar 

  8. Westin SN, Lacour RA, Urbauer DL, et al (2008) Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol 26:5965–5971

    Article  PubMed  Google Scholar 

  9. Malander S, Rambech E, Kristoffersson U, et al (2006) The contribution of the hereditary non-polyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol 101:238–243

    Article  CAS  PubMed  Google Scholar 

  10. Jensen KC, Mariappan MR, Putcha GV, et al (2008) Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger. Am J Surg Pathol 32:1029–1037

    Article  PubMed  Google Scholar 

  11. Lu KH, Dinh M, Kohlmann W, et al (2005) Gynecologic cancer as a “sentinel cancer” for women with hereditary non-polyposis colorectal cancer syndrome. Obstet Gynecol 105:569–574

    PubMed  Google Scholar 

  12. Ponti G, Ponz de Leon M (2005) Muir-Torre syndrome. Lancet Oncol 6:980–987

    Article  PubMed  Google Scholar 

  13. Hamilton SR, Liu B, Parsons RE, et al (1995) The molecular basis of Turcot’s syndrome. N Engl J Med 332:839–847

    Article  CAS  PubMed  Google Scholar 

  14. Di Fiore F, Charbonnier F, Martin C, et al (2004) Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 41:18–20

    Article  PubMed  Google Scholar 

  15. Ligtenberg MJL, Kuiper RP, Chan TL, et al (2009) Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nature Genet 41:113–117

    Article  CAS  Google Scholar 

  16. Kovacs ME, Papp J, Szentirmay Z, et al (2009) Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 30:197–203

    Article  CAS  PubMed  Google Scholar 

  17. Niessen RC, Hofstra RMW, Westers H, et al (2009) Germ line hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 48:737–744

    Article  CAS  PubMed  Google Scholar 

  18. Senter L, Clendenning M, Sotamaa K, et al (2008) The clinical phenotype of Lynch syndrome due to germ line PMS2 mutations. Gastroenterology 135:419–428

    Article  CAS  PubMed  Google Scholar 

  19. East JE, Suzuki N, Stavrinidis M, et al (2008) Narrow band imaging for colonoscopic surveillance in hereditary non-polyposis colorectal cancer. Gut 57:65–67

    Article  CAS  PubMed  Google Scholar 

  20. Renkonen-Sinisalo L, Bützow R, Leminen A, et al (2006) Surveillance for endometrial cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer 120:821–824

    Article  CAS  Google Scholar 

  21. Jass RJ (2006) Hereditary non-polyposis colorectal cancer: the rise and fall of a confusing term. World J Gastroenterol 12:4943–4950

    CAS  PubMed  Google Scholar 

  22. Lindor NM, Rabe K, Petersen GM, et al (2005) Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 293:1979–1985

    Article  CAS  PubMed  Google Scholar 

  23. Llor X, Pons E, Xicola RM, et al (2005) Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 11:7304–7310

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Service de génétique, unité d’oncogénétique, hôpital européen Georges-Pompidou, 20-40, rue Leblanc, F-75908, Paris cedex 15, France

    B. Buecher & D. Molière

  2. Service de génétique, institut Curie, 26, rue d’Ulm, F-75948, Paris cedex 05, France

    B. Buecher & A. De Pauw

Authors
  1. B. Buecher
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  2. D. Molière
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  3. A. De Pauw
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Correspondence to B. Buecher.

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Buecher, B., Molière, D. & De Pauw, A. Les nouveautés dans les formes héréditaires des cancers colorectaux. Colon Rectum 3, 222–229 (2009). https://doi.org/10.1007/s11725-009-0182-4

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  • DOI: https://doi.org/10.1007/s11725-009-0182-4

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