Mutation spectrum in South American Lynch syndrome families

Hereditary Cancer in Clinical Practice
Mev Dominguez-ValentinBenedito Mauro Rossi

Abstract

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. 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. 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. 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.

References

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Citations

Mar 24, 2016·Familial Cancer·Carlos A VaccaroJames Church
Mar 19, 2015·Familial Cancer·Marcia Cruz-CorreaSegundo Rodriguez-Quilichini
Nov 13, 2014·Gastroenterology Research and Practice·Juan M Marqués-LespierMarcia Cruz-Correa
Sep 9, 2016·Frontiers in Oncology·Mev Dominguez-ValentinCarlos A Vaccaro
Jan 28, 2017·Hereditary Cancer in Clinical Practice·Marcia Cruz-CorreaUNKNOWN Puerto Rico Clinical Cancer Genetics Consortia
Mar 10, 2018·Genes, Chromosomes & Cancer·Nicole KögerGuido Plotz
Oct 12, 2018·International Journal of Cancer. Journal International Du Cancer·Carlos Alberto VaccaroUNKNOWN in collaboration with GETH
Jan 11, 2019·Familial Cancer·Leah H BillerMatthew B Yurgelun
Mar 27, 2018·Cancer Medicine·Nayê Balzan SchneiderUNKNOWN Brazilian Lynch Syndrome Study Group

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Software Mentioned

Polyphen
SIFT
SPSS Statistics
MAPP
PON
MMR
mut

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