Mutation spectrum in South American Lynch syndrome families
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4376259
- author
- organization
- publishing date
- 2013
- type
- Contribution to journal
- 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 Ltd.
- 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
- 2022-04-27 20:22:25
@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}}, keywords = {{Lynch syndrome; MLH1; MSH2; South America; Mutation}}, language = {{eng}}, publisher = {{Termedia Publishing House Ltd.}}, series = {{Hereditary Cancer in Clinical Practice}}, title = {{Mutation spectrum in South American Lynch syndrome families}}, url = {{https://lup.lub.lu.se/search/files/1698728/4646875}}, doi = {{10.1186/1897-4287-11-18}}, volume = {{11}}, year = {{2013}}, }