Mutation spectrum in South American Lynch syndrome families

Mev Dominguez-Valentin; Mef Nilbert; Patrik Wernhoff; Francisco López-Köstner; 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

doi:10.1186/1897-4287-11-18

Mutation spectrum in South American Lynch syndrome families

Mev Dominguez-Valentin, Mef Nilbert, Patrik Wernhoff, Francisco López-Köstner, 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

20 Citations (Scopus)

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.

Original language	English
Article number	18
Journal	Hereditary Cancer in Clinical Practice
Volume	11
Issue number	1
Number of pages	9
ISSN	1731-2302
DOIs	https://doi.org/10.1186/1897-4287-11-18
Publication status	Published - 18 Dec 2013

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Dominguez-Valentin, M., Nilbert, M., Wernhoff, P., López-Köstner, F., Vaccaro, C., Sarroca, C., Palmero, E. I., Giraldo, A., Ashton-Prolla, P., Alvarez, K., Ferro, A., Neffa, F., Caris, J., Carraro, D. M., & Rossi, B. M. (2013). Mutation spectrum in South American Lynch syndrome families. Hereditary Cancer in Clinical Practice, 11(1), [18]. https://doi.org/10.1186/1897-4287-11-18

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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.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 = "Mev Dominguez-Valentin and Mef Nilbert and Patrik Wernhoff and Francisco L{\'o}pez-K{\"o}stner and Carlos Vaccaro and Carlos Sarroca and Palmero, {Edenir Ines} and Alejandro Giraldo and Patricia Ashton-Prolla and Karin Alvarez and Alejandra Ferro and Florencia Neffa and Junea Caris and Carraro, {Dirce M} and Rossi, {Benedito M}",

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doi = "10.1186/1897-4287-11-18",

language = "English",

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T1 - Mutation spectrum in South American Lynch syndrome families

AU - Dominguez-Valentin, Mev

AU - Nilbert, Mef

AU - Wernhoff, Patrik

AU - López-Köstner, Francisco

AU - Vaccaro, Carlos

AU - Sarroca, Carlos

AU - Palmero, Edenir Ines

AU - Giraldo, Alejandro

AU - Ashton-Prolla, Patricia

AU - Alvarez, Karin

AU - Ferro, Alejandra

AU - Neffa, Florencia

AU - Caris, Junea

AU - Carraro, Dirce M

AU - Rossi, Benedito M

PY - 2013/12/18

Y1 - 2013/12/18

N2 - 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.

AB - 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.

U2 - 10.1186/1897-4287-11-18

DO - 10.1186/1897-4287-11-18

M3 - Journal article

C2 - 24344984

SN - 1731-2302

VL - 11

JO - Hereditary Cancer in Clinical Practice

JF - Hereditary Cancer in Clinical Practice

IS - 1

M1 - 18

ER -

Mutation spectrum in South American Lynch syndrome families

Abstract

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