ArticleFamilial cancer2005
MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.
Article in Familial cancer, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.PloS one · 2013Pooled it
- Using of endoscopic polypectomy in patients with diagnosed malignant colorectal polyp - The cross-sectional clinical study.Open medicine (Warsaw, Poland) · 2023Article
- 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
- Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.Familial cancer · 2015Article
- Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment.Acta neuropathologica · 2015Article
- Mutation spectrum in South American Lynch syndrome families.Hereditary cancer in clinical practice · 2013Article
- Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.Familial cancer · 2012Article
- Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.Familial cancer · 2012Article
- Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.BMC cancer · 2012Article
- Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.Familial cancer · 2011Article
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Authors and funding
13 authors.
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Abstract
This study searched for mutations in the MLH1 and MSH2 genes in 23 unrelated Colombian families with suspected hereditary nonpolyposis colorectal cancer (HNPCC). The families were grouped according to the fulfillment of the Amsterdam II criteria or the Bethesda guidelines. We screened all probands by single-strand conformational polymorphism (SSCP) and direct DNA sequencing. Eleven families fulfilled the Amsterdam criteria II and 12 families the Bethesda guidelines. Germline mutations were detected in 11 families, which corresponds to a mutation detection rate of 48%. When only families fulfilling the Amsterdam II criteria were analyzed, the mutation detection rate rose to 82%. Only 8% of the mutation detection rate was found in families following the Bethesda guidelines. Three mutations were shared by two different families, which corresponds to a total of eight different mutations, seven of them found in the MLH1 gene and one in the MSH2 gene. We have identified four mutations that have not been previously reported to the International Collaborative Group of HNPCC. Three of these are pathogenic, a single base substitution (C > T) at codon 640, exon 17, a G deletion at codon 619, exon 16 and in the MLH1 gene and a two-nucleotide deletion (TG) at codon 184, exon 3 in the MSH2. Also, an unclassified variant, a substitution (C > G) at the codon 141, exon 5 of the MLH1, was detected.
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