The mismatch repair (MMR) pathway is involved in the removal of DNA base mismatches that arise either during DNA replication or are caused by DNA damage. Mutations in four genes involved in MMR, MSH2, MLH1, PMS2 and MSH6, predispose to a range of tumorigenic conditions, including hereditary nonpolyposis colon cancer, also known as Lynch syndrome. Here we discuss the canonical MMR pathway and th...

Two stochastic sensors based on modification of nitrogen and boron dopped exfoliated graphene with a complex protoporphyrin cobalt, were used for molecular recognition quantification MLH1, MSH2, MSH6, PMS2 KRAS biomarkers in biological samples (whole blood, urine, saliva, tumoral tissue). Limits determination fg ml ?1 magnitude order broad linear concentration ranges favorized their from very l...

Aim: to reveal hereditary mutations in patients with adenomatous polyps of the gastrointestinal tract. Patients and methods: a retrospective cohort study included 8 tract (ranging from 4 several hundred). The APC, AXIN2, BMPR1A, BRCA2, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MutYH, NTHL1, PMS2, POLD1, POLE, SMAD4, STK11 genes were studied using new generation sequencin...

The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hPMS2-E705K (pms1-E738K in yeast) did not significantly affect hPMS2 (Pms1p in yeast) stability or interaction with MLH1, it could not complement the...

We have isolated N-methyl-N'-nitro-N-nitrosoguanidine-resistant cell lines from 43-3B Chinese hamster ovary cells, which are deficient in the ERCC1 gene involved in nucleotide excision repair. By Western blotting analysis, we found cell lines that are deficient or decreased in the amount of MSH6, or PMS2, or MSH2 proteins. Cell extracts of these cell lines show reduced efficiency of G:T mismatc...

The immunohistochemistry (IHC) with anti-BRAF V600E (VE1) mouse monoclonal antibody and DNA sequencing for BRAF V600E mutation was performed on 91 MSI-H colorectal specimens from patients tested for Lynch syndrome. Out of 91 cases 11 cases were positive for BRAF V600E mutation by Sanger sequencing and also by IHC. Seventy nine cases out of the remaining 80 cases classified as BRAF wild type sho...