title: Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.
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.
authors: Department of Biology, Faculty of Sciences, Razi University, Bagh Abrisham, Kermanshah, Iran.
authors: Somayeh
authors: S
authors: Shahmoradi
authors: Ali
authors: A
authors: Bidmeshkipour
authors: Ahmad
authors: A
authors: Salamian
authors: Mohammad Hasan
authors: MH
authors: Emami
authors: Zahra
authors: Z
authors: Kazemi
authors: Mansoor
authors: M
authors: Salehi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D005500:Follow-Up Studies; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007492:Iran; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004273:DNA, Neoplasm; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1