title: [Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas].
abstract: BACKGROUND
  The HNPCC syndrome (hereditary non polyposis colon cancer) is an inherited condition defined by clinical and genealogical information, known as Amsterdam criteria. In about 70% of cases, HNPCC syndrome is caused by germline mutations in MMR genes, leading to microsatellite instability of tumor DNA (MSI phenotype). Patients affected by the disease are at high risk for colorectal and endometrial carcinomas, but also for small intestine, urothelial, ovary, stomach and biliary tract carcinomas. HNPCC syndrome is responsible for 5% of colorectal cancers. Identification and management of this disease are part of a multidisciplinary procedure.
  
  
  METHODS
  12 experts have been mandated by the French Health Ministry to analyze and synthesize their consensus position, and the resulting document has been reviewed by an additional group of 4 independent experts.
  
  
  CONCLUSIONS
  The lack of sensitivity of Amsterdam criteria in recognizing patients carrying a MMR germline mutation led to an enlargement of these criteria for the recruitment of possible HNPCC patients, and to a 2-steps strategy, asking first for a tumor characterization according to MSI phenotype, especially in case of early-onset sporadic cases. The identification of germline MMR mutations has no major consequence on the cancer treatments, but influences markedly the long-term follow-up and the management of at-risk relatives. Gene carriers will enter a follow-up program regarding their colorectal and endometrial cancer risks, but other organs being at low lifetime risk, no specific surveillance will be proposed.
authors.affiliation: Inserm U434, CEPH, Paris.
authors.forename: Sylviane
authors.initials: S
authors.lastname: Olschwang
authors.forename: Catherine
authors.initials: C
authors.lastname: Bonaïti
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Thierry
authors.initials: T
authors.lastname: Frébourg
authors.forename: Sophie
authors.initials: S
authors.lastname: Grandjouan
authors.forename: Christine
authors.initials: C
authors.lastname: Lasset
authors.forename: Pierre
authors.initials: P
authors.lastname: Laurent-Puig
authors.forename: Fabrice
authors.initials: F
authors.lastname: Lecuru
authors.forename: Bertrand
authors.initials: B
authors.lastname: Millat
authors.forename: Hagay
authors.initials: H
authors.lastname: Sobol
authors.forename: Gilles
authors.initials: G
authors.lastname: Thomas
authors.forename: François
authors.initials: F
authors.lastname: Eisinger
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D004260:DNA Repair / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D010353:Patient Education as Topic; D010641:Phenotype; D011159:Population Surveillance; D017410:Practice Guidelines as Topic; D012307:Risk Factors