A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.

Instability-High Tumor Unmethylated Allele in the Resulting Microsatellite Normal Tissue and Loss of Heterozygosity of the Gene in MLH1 Associated with Hypermethylation of the A Hereditary Nonpolyposis Colorectal Carcinoma Case

Fourteen suspected hereditary nonpolyposis colorectal carcinoma cases with microsatellite unstable (microsatellite instability-high; MSI-H) tumors but no germ-line MSH2, MSH6, or MLH1 mutations were examined for hypermethylation of CpG sites in the critical promoter region of MLH1. The methylation patterns were determined using methylationspecific PCR and by sequence analysis of sodium bisulfit...

سه موتاسیون ژرم لاین جدید در ژن MLH1 در بیماران مبتلا به سرطان کولورکتال ارثی

Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...

Heritable epigenetic mutation of MLHI in a mother and daughter with Lynch syndrome

Background Lynch syndrome is a hereditary predisposition to colorectal and endometrial cancers, in addition to cancers of the stomach, ovary, upper urinary tract, small bowel, hepatobiliary tract, skin and brain. Lynch syndrome is caused by defects in DNA mismatch repair (MMR), and germline mutations in MLHl, MSH2, MSH6 and PMS2 as well as high levels of tumor microsatellite instability (MSI) a...

Molecular Analysis of Microsatellite Instability in Hereditary Non Polyposis Colon Carcinoma Patients from North-East Iran

  Background and Objectives: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by germ-line mutations in DNA mismatch repair genes. Tumors arising as a result of these mutations display instability in a sequence area known as microsatellites. Studies have shown that some Bethesda markers (BAT25, BAT26) are more efficient than other...

Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)