Mutation spectrum in South American Lynch syndrome families

Research output: Contribution to journalArticle


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. Conclusion: 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.


  • Mev Dominguez
  • Mef Nilbert
  • Patrik Wernhoff
  • Francisco Lopez-Koestner
  • Carlos Vaccaro
  • Carlos Sarroca
  • Edenir Ines Palmero
  • Alejandro Giraldo
  • Patricia Ashton-Prolla
  • Karin Alvarez
  • Alejandra Ferro
  • Florencia Neffa
  • Junea Caris
  • Dirce M. Carraro
  • Benedito M. Rossi
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • Lynch syndrome, MLH1, MSH2, South America, Mutation
Original languageEnglish
Article number18
JournalHereditary Cancer in Clinical Practice
Publication statusPublished - 2013
Publication categoryResearch

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