Acta Endoscopica

, Volume 32, Issue 4, pp 633–653 | Cite as

Surveillance des sujets à risque très élevé de cancer colorectal (polyposes, cancer colique héréditaire sans polypose)

  • Sophie Grandjouan
Article

Résumé

Outre le risque spontané de cancer colique que présente la population générale française, avec pour facteur commun l'âge croissant, certaines personnes ont un surcroît de risque par héritage de prédispositions génétiques (inscrites dans l'ADN constitutionnel). Des critères consensuels permettent de délimiter trois catégories de risque (général ou banal, élevé, très élevé), auxquelles correspondent des mesures de dépistage et de surveillance spécifiques. Dans la catégorie du risque très élevé, des diagnostics moléculaires sont envisageables. Ceux-ci constituent le support de diagnostics prédictifs chez les membres asympomatiques des familles à risque. Ces diagnostics font donc partie des recommandations diagnostiques, puis influencent les conseils de surveillance, en particulier quand des relations existent entre le génotype et l'expression phénotypique des prédispositions. Le défaut de sensibilité et de spécificité des critères cliniques d'indication des diagnostics génétiques rend compte de l'utilité de critères biologiques complémentaires (lisibles dans l'ADN somatique, recherche d'instabilité des microsatellites). Les recommandations de surveillance sont liées à l'expressivité et à la pénétrance des polyposes adénomateuses et des syndromes HNPCC. Elles sont mises à jour en fonction des descriptions épidémiologiques établies en fonction des diagnostics génotypiques.

Mots-clés

cancers coliques familiaux cancer colorectal dépistage mutations constitutionnelles HNPCC oncogénénétique polypose polypose adénomateuse surveillance 

Abréviations/ Abbreviations

FAP

Familial Adenomatous Polyposis (Polypose adénomateuse familiale)

HNPCC

Hereditary NonPolyposis Colorectal Cancer (ou Syndrome de Lynch)

APC

Nom du gène impliqué dans les FAP/name of the gene involved in FAP (Adenomatous Polyposis Coli)

AAPC

Polypose adénomateuse atténuée (attenuated adenomatous polyposis)

MMR

Mismatch Repair (nom de la famille de gènes codant pour des protéines de réparation des défauts spontanés d'appariement des acides nucléiques, lors de la réplication de l'ADN cellulaire). Les gènes MMR sont impliqués dans la transmission héréditaire des syndromes HNPCC, dont les tumeurs ont un phénotype instable caractéristique dit RER ou MSI (instabilité nucléotidique)name of the family of genes that codes for proteins repairing spontaneous defects in nucleic acid pairing, during cellular DNA replication). The MMR genes are involved in the hereditary transmission of HNPCC

RER

Replication Error

MSI

Microsatellite Instability

PCR

Polymerase Chain Reaction

Surveillance of very high-risk subjects (polyposis, hereditary nonpolyposis colorectal cancer)

Summary

The French general population shares a common risk of colorectal cancer, which is influenced by environmental factors and life-long duration of exposition to such risks. In addition, some individuals are at increased risk, due to inherited germline mutations, as in Familial Adenoma Polyposes and Hereditary Non Polyposis Colorectal Cancer syndromes. Clinical and biological criteria have been proposed to determine three categories of risk (general, high, and very high risks). In addition to medical recommendations for screening and surveillance, predictive molecular diagnoses are available which help the selection of risk carriers, and also provide more accurate epidemiological descriptions of expressivity and penetrance of such inherited syndromes.

Key-words

adenomatous polyposis colorectal cancer familial colon cancer germline mutations hereditary non polyposis colorectal cancer oncogenetics polyposis surveillance screening 

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Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Sophie Grandjouan
    • 1
  1. 1.Consultation d'oncogénétique digestive, Service d'hépato-gastroentérologieCHU CochinParisFrance

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