ArticleHereditary cancer in clinical practice2013
Mutation spectrum in South American Lynch syndrome families.
Article in Hereditary cancer in clinical practice, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.European journal of human genetics : EJHG · 2026Article
- A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.International journal of molecular sciences · 2022Article
- Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO global oncology · 2022Article
- A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.Gastroenterology report · 2021Article
- Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.BMC cancer · 2021Article
- MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.Familial cancer · 2020Article
- Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.Journal of clinical medicine · 2020Article
- From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.International journal of cancer · 2019Review
- Recent advances in Lynch syndrome.Familial cancer · 2019Review
- Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Cancer medicine · 2018Article
- DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.Cancer · 2017Article
- A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.BMC cancer · 2017Article
- Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.Cancer genetics · 2017Article
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- Lynch syndrome in South America: past, present and future.Familial cancer · 2016Article
- MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.Frontiers in oncology · 2016Article
- Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.Familial cancer · 2015Article
- Article
- Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.Gastroenterology research and practice · 2014Article
- A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.Journal of Zhejiang University. Science. BArticle
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic 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.
methodsWe 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.
resultsDisease-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.
conclusionThe 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.
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