Mutation spectrum in South American Lynch syndrome families
Author
Summary, in English
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.
Publishing year
2013
Language
English
Publication/Series
Hereditary Cancer in Clinical Practice
Volume
11
Full text
- Available as PDF - 655 kB
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Document type
Journal article
Publisher
Termedia Publishing House Ltd.
Topic
- Cancer and Oncology
Keywords
- Lynch syndrome
- MLH1
- MSH2
- South America
- Mutation
Status
Published
Research group
- Muscle Biology
ISBN/ISSN/Other
- ISSN: 1897-4287