ArticleFamilial cancer2011
Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
Article in Familial cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.European journal of human genetics : EJHG · 2026Article
- High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Article
- Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.Cancer reports (Hoboken, N.J.) · 2024Article
- MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.Familial cancer · 2020Article
- From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.International journal of cancer · 2019Review
- Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort.Familial cancer · 2018Article
- Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Cancer medicine · 2018Article
- 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
- First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.Familial cancer · 2017Article
- Lynch syndrome in South America: past, present and future.Familial cancer · 2016Article
- Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal.Journal of human genetics · 2016Article
- Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.Familial cancer · 2015Article
- Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.PloS one · 2015Article
- 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
- Mutation spectrum in South American Lynch syndrome families.Hereditary cancer in clinical practice · 2013Article
- Evaluation of tumor suppressor gene expressions and aberrant methylation in the colon of cancer-induced rats: a pilot study.Molecular biology reports · 2013Article
- Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.BMC cancer · 2012Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes individuals to development of cancers early in life. These cancers are mainly the following: colorectal, endometrial, ovarian, small intestine, stomach and urinary tract cancers. LS is caused by germline mutations in DNA mismatch repair genes (MMR), mostly MLH1 and MSH2, which are responsible for more than 85% of known germline mutations. To search for germline mutations in MLH1 and MSH2 genes in 123 unrelated South American suspected LS patients (Bethesda or Amsterdam Criteria) DNA was obtained from peripheral blood, and PCR was performed followed by direct sequencing in both directions of all exons and intron-exon junctions regions of the MLH1 and MSH2 genes. MLH1 or MSH2 pathogenic mutations were found in 28.45% (34/123) of the individuals, where 25/57 (43.85%) fulfilled Amsterdam I, II and 9/66 (13.63%) the Bethesda criteria. The mutations found in both genes were as follows: nonsense (35.3%), frameshift (26.47%), splicing (23.52%), and missense (9%). Thirteen alterations (35.14%) were described for the first time. The data reported in this study add new information about MLH1 and MSH2 gene mutations and contribute to better characterize LS in Brazil, Uruguay and Argentina. The high rate of novel mutations demonstrates the importance of defining MLH1 and MSH2 mutations in distinct LS populations.
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