title: Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay.
abstract: OBJECTIVE
  We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission.
  
  
  METHODS
  DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs.
  
  
  RESULTS
  We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary.
  
  
  CONCLUSIONS
  Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
authors.affiliation: Coloproctology Service, Armed Forces Central Hospital, Montevideo, Uruguay.
authors.forename: C
authors.initials: C
authors.lastname: Sarroca
authors.forename: N
authors.initials: N
authors.lastname: Alfano
authors.forename: G T
authors.initials: GT
authors.lastname: Bendin
authors.forename: A
authors.initials: A
authors.lastname: Della Valle
authors.forename: A
authors.initials: A
authors.lastname: Dominguez
authors.forename: R
authors.initials: R
authors.lastname: Quadrelli
authors.forename: A
authors.initials: A
authors.lastname: Vaglio
authors.forename: B
authors.initials: B
authors.lastname: Mechoso
authors.forename: S T
authors.initials: ST
authors.lastname: Tinley
authors.forename: A E
authors.initials: AE
authors.lastname: Harty
authors.forename: J F
authors.initials: JF
authors.lastname: Lynch
authors.forename: B A
authors.initials: BA
authors.lastname: Franklin
authors.forename: P
authors.initials: P
authors.lastname: Kristo
authors.forename: T C
authors.initials: TC
authors.lastname: Smyrk
authors.forename: P
authors.initials: P
authors.lastname: Peltomäki
authors.forename: H T
authors.initials: HT
authors.lastname: Lynch
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D002352:Carrier Proteins; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins; D010375:Pedigree; D015996:Survival Rate; D014583:Uruguay
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1