title: [HNPCC syndrome (hereditary non polyposis colon cancer): identification and management].
abstract: BACKGROUND
  The hereditary non-polyposis colon cancer (HNPCC) syndrome 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 other organs tumors. HNPCC syndrome is responsible for 5% of colorectal cancers.
  
  
  METHODS
  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 two-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; other organs being at low lifetime risk, no specific surveillance will be proposed.
authors.affiliation: Institut Paoli-Calmettes, INSERM UMR 599, 232, boulevard Sainte-Marguerite, 13009 Marseille, France.
authors.forename: S
authors.initials: S
authors.lastname: Olschwang
authors.forename: C
authors.initials: C
authors.lastname: Bonaïti
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: T
authors.initials: T
authors.lastname: Frébourg
authors.forename: S
authors.initials: S
authors.lastname: Grandjouan
authors.forename: C
authors.initials: C
authors.lastname: Lasset
authors.forename: P
authors.initials: P
authors.lastname: Laurent-Puig
authors.forename: F
authors.initials: F
authors.lastname: Lecuru
authors.forename: B
authors.initials: B
authors.lastname: Millat
authors.forename: H
authors.initials: H
authors.lastname: Sobol
authors.forename: G
authors.initials: G
authors.lastname: Thomas
authors.forename: F
authors.initials: F
authors.lastname: Eisinger
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control / Q000628:therapy; D004273:DNA, Neoplasm; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors
chemical_list: D004273:DNA, Neoplasm