title: [Need of new clinical criteria for the identification of genetic Lynch syndrome].
abstract: BACKGROUND
  Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).
  
  
  OBJECTIVE
  To correlate, in families with HNPCC, the clinical criteria with the probability of detecting a germ-line mutation in MLH1, MSH2 and MSH6 mismatch repair genes.
  
  
  METHODS
  We included 92 affected patients belonging to different families. Clinical criteria leading to HNPCC diagnosis were evaluated. Germ-line mutations in MLH1, MSH2 and MSH6 genes were performed by DGGE/MLPA and direct sequencing.
  
  
  RESULTS
  Germ-line mutations were detected in 54/92 (59%) families, 30 in MLH1, 23 in MSH2 and 1 in MSH6. Germ-line mutation detection was significantly lower in ACI without age criteria (0%), when compared to: ACI (60%), ACII (62%), ACII without age criteria (67%) and BG (61%).
  
  
  CONCLUSIONS
  The classic, modified AC and BG allowed the detection of an identical percentage of families with mutation positive HNPCC. The absence of the age criteria in the ACI makes the HNPCC diagnosis highly unlikely. Simpler and uniform criteria should be elaborated, to allow a homogeneous identification of families with HNPCC.
authors.affiliation: Serviço de Gastrenterologia, Centro de Investigação de Patologia Molecular, Clínica de Risco Familiar, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa.
authors.forename: Rita
authors.initials: R
authors.lastname: Sousa
authors.forename: Pedro
authors.initials: P
authors.lastname: Lage
authors.forename: Sara
authors.initials: S
authors.lastname: Ferreira
authors.forename: Isabel
authors.initials: I
authors.lastname: Claro
authors.forename: Inês
authors.initials: I
authors.lastname: Francisco
authors.forename: Bruno
authors.initials: B
authors.lastname: Filipe
authors.forename: Cristina
authors.initials: C
authors.lastname: Albuquerque
authors.forename: Alexandra
authors.initials: A
authors.lastname: Suspiro
authors.forename: Paula
authors.initials: P
authors.lastname: Rodrigues
authors.forename: Carlos
authors.initials: C
authors.lastname: Nobre-Leitão
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation