title: Mutation spectrum in South American Lynch syndrome families.
abstract: BACKGROUND
  Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system.
  
  
  METHODS
  We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria and/or the Bethesda guidelines from Argentina, Brazil, Chile, Colombia and Uruguay were included.
  
  
  RESULTS
  Disease-predisposing mutations were identified in 37% of the families and affected MLH1 in 60% and MSH2 in 40%. Half of the mutations have not previously been reported and potential founder effects were identified in Brazil and in Colombia.
  
  
  CONCLUSIONS
  The South American Lynch syndrome mutation spectrum includes multiple new mutations, identifies potential founder effects and is useful for future development of genetic testing in this continent.
authors.affiliation: The Danish HNPCC Register, Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Hvidovre, Denmark. mev_dv@yahoo.com.
authors.forename: Mev
authors.initials: M
authors.lastname: Dominguez-Valentin
authors.forename: Mef
authors.initials: M
authors.lastname: Nilbert
authors.forename: Patrik
authors.initials: P
authors.lastname: Wernhoff
authors.forename: Francisco
authors.initials: F
authors.lastname: López-Köstner
authors.forename: Carlos
authors.initials: C
authors.lastname: Vaccaro
authors.forename: Carlos
authors.initials: C
authors.lastname: Sarroca
authors.forename: Edenir Ines
authors.initials: EI
authors.lastname: Palmero
authors.forename: Alejandro
authors.initials: A
authors.lastname: Giraldo
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
authors.forename: Karin
authors.initials: K
authors.lastname: Alvarez
authors.forename: Alejandra
authors.initials: A
authors.lastname: Ferro
authors.forename: Florencia
authors.initials: F
authors.lastname: Neffa
authors.forename: Junea
authors.initials: J
authors.lastname: Caris
authors.forename: Dirce M
authors.initials: DM
authors.lastname: Carraro
authors.forename: Benedito M
authors.initials: BM
authors.lastname: Rossi