ArticleFamilial cancer2012
Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Genetic and molecular origins of colorectal Cancer among the Iranians: an update.Diagnostic pathology · 2018Review
- MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.Gastroenterology and hepatology from bed to bench · 2013Review
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Authors and funding
6 authors at 3 institutions in 1 country.
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Abstract
Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reaction-single strand conformational polymorphism and direct sequencing methods. Here we report two novel frameshift mutations in this gene in our studied population. One of them results from a deletion of "T" at codon 36, exon 1 which causes premature stop codon and a truncated protein. The other results from a deletion of "T" at codon 753, exon 19 causing a delayed stop codon. There are a variety of the reported novel mutations in hMLH1 gene studies. Identification of these mutations is necessary in different populations and can help the management of colorectal cancer in these populations by screening, by prevention strategies, and by following up the suspected HNPCC families.
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