title: Amsterdam criteria II and endometrial cancer index cases for an accurate selection of HNPCC families.
abstract: Endometrial carcinoma (EC) is the second most common tumor in hereditary nonpolyposis colorectal cancer (HNPCC), with an incidence rate of 60% by the age of 70 in mutation carriers. The International Collaborative Group on HNPCC revised the Amsterdam criteria and proposed a new, wider definition including extracolonic cancers. The aim of our study was to evaluate the accuracy of a new definition called Amsterdam criteria II. We updated, reclassified and compared the pedigrees of 29 women, already reported as being affected by EC and having a colorectal cancer familial background, according to the two clinical diagnostic criteria for HNPCC (Amsterdam criteria I, ACI, and Amsterdam criteria II, ACII) after two periods of observation (1990-1995 and 1995-2000). According to ACII the frequency of HNPCC in the population under study increased from 0.9% to 3.7% in the period 1990-1995 and from 3.2% to 3.7% in the period 1995-2000. ACII allowed early detection of HNPCC families and thus made it possible to provide them with a suitable surveillance program and genetic testing.
authors: Department of Gastroenterology, Centro di Riferimento Oncologico, Aviano, Italy. mfornasarig@cro.it
authors: Mara
authors: M
authors: Fornasarig
authors: Alessandra
authors: A
authors: Viel
authors: Ettore
authors: E
authors: Bidoli
authors: Elio
authors: E
authors: Campagnutta
authors: Alessandro Marco
authors: AM
authors: Minisini
authors: Renato
authors: R
authors: Cannizzaro
authors: Lara
authors: L
authors: Della Puppa
authors: Mauro
authors: M
authors: Boiocchi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D002352:Carrier Proteins; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D016889:Endometrial Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D009363:Neoplasm Proteins / Q000235:genetics; D009367:Neoplasm Staging; D009687:Nuclear Proteins; D018579:Patient Selection; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein