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Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Genes & Diseases 2020年第4期7卷 614-619页

作者： Hamid Ghaedi Samira Molaei Ramsheh Maryam Erfanian Omidvar Afsaneh Labbaf elham alehabib Sanaz Akbari Fatemeh Pourfatemi Hossein Darvish Department of Medical Genetics School of MedicineShahid Beheshti University of Medical SciencesTehranIran Department of Medical Laboratory Technology School of Allied Medical SciencesShahid Beheshti University of Medical SciencesTehranIran Student Research Committee Department of Medical GeneticsSchool of MedicineShahid Beheshti University of Medical SciencesTehranIran Nourdanesh Institute MeymehIsfahanIran Deputy for Prevention Affairs of State Welfare Organization of Mazandaran SariIran Cancer Research Center Semnan University of Medical SciencesSemnanIran Department of Medical Genetics School of MedicineSemnan University of Medical SciencesSemnanIran

Hereditary nonpolyposis colorectal cancer or Lynch syndrome is autosomal dominant cancer predisposition syndrome characterized by early onset of colorectal cancer and neoplasia in other *** condition typically caused by germline mutations in the mismatch repair genes MLH1,MSH2,MSH6,and *** date,a considerable number of MLH1 gene mutations have been found to be associated with Lynch *** were aimed at identifying a genetic mutation in an extended Iranian family affected by Lynch syndromerelated ***,we applied whole-exome sequencing to identifying mutation in the ***,we applied Sanger sequencing to validate the candidate *** found a heterozygous novel single nucleotide deletion(c.206delG)in the exon two of the MLH1 gene in the ***,Sanger sequencing analysis showed that this mutation has segregated in all affected family *** mutation(c.206delG:p.R69fs)may create a premature stop codon followed by the formation of a truncated(p.R69fs)Mlh1 *** findings expand the mutational spectra of MLH1 gene related Lynch syndrome which is vital for screening and genetic diagnosis of the disease.

关键词： Colorectal cancer Lung cancer Mismatch repair MLH1

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