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Mutation spectrum in South American Lynch syndrome families

Dominguez, Mev LU ; Nilbert, Mef LU ; Wernhoff, Patrik LU ; Lopez-Koestner, Francisco ; Vaccaro, Carlos ; Sarroca, Carlos ; Palmero, Edenir Ines ; Giraldo, Alejandro ; Ashton-Prolla, Patricia and Alvarez, Karin , et al. (2013) In Hereditary Cancer in Clinical Practice 11.
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... (More)
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. (Less)
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publication status
published
subject
keywords
Lynch syndrome, MLH1, MSH2, South America, Mutation
in
Hereditary Cancer in Clinical Practice
volume
11
article number
18
publisher
Termedia Publishing House
external identifiers
  • wos:000332011300001
  • scopus:84890354878
  • pmid:24344984
ISSN
1897-4287
DOI
10.1186/1897-4287-11-18
language
English
LU publication?
yes
id
582441db-f437-496a-8567-eeaf9d360e7a (old id 4376259)
date added to LUP
2016-04-01 10:16:01
date last changed
2020-01-05 05:31:29
@article{582441db-f437-496a-8567-eeaf9d360e7a,
  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. 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.},
  author       = {Dominguez, Mev and Nilbert, Mef and Wernhoff, Patrik and Lopez-Koestner, Francisco and Vaccaro, Carlos and Sarroca, Carlos and Palmero, Edenir Ines and Giraldo, Alejandro and Ashton-Prolla, Patricia and Alvarez, Karin and Ferro, Alejandra and Neffa, Florencia and Caris, Junea and Carraro, Dirce M. and Rossi, Benedito M.},
  issn         = {1897-4287},
  language     = {eng},
  publisher    = {Termedia Publishing House},
  series       = {Hereditary Cancer in Clinical Practice},
  title        = {Mutation spectrum in South American Lynch syndrome families},
  url          = {https://lup.lub.lu.se/search/ws/files/1698728/4646875},
  doi          = {10.1186/1897-4287-11-18},
  volume       = {11},
  year         = {2013},
}