Hereditary Non-polyposis Colorectal Cancer (HNPCC) – MLH1, MSH2, MSH6 and PMS2 genes NGS panel

Hereditary non-polyposis colorectal cancer (HNPCC) is associated mainly with mutations of the MLH1, MSH2, MSH6 and PMS2 genes, regulating the DNA repair (mismatch repair) pathway. Inherited mutations in the genes MLH1 and MSH2 are associated with ~90% of pathogenic mutations detected in families with the disease, while mutations in the other two genes are less frequent. Individuals carrying a mutation in any of these genes have a highly increased risk (~75%) to develop the disease up to the age of 70 years and also have an increased risk for other types of cancers, such as gastric cancer, ovarian cancer, endometrial cancer, genitourinary cancer and biliary cancer.

We perform DNA sequence analysis, via Next Generation Sequencing (NGS) on a Genome Analyzer – Ion Proton platform, of all exons and intron-exon junctions/splice sites of the genes, allowing us to detect >98% of all pathogenic mutations of the genes through the use of specially developed bioinformatics tools, thus providing in a single step an increased clinical sensitivity and performance compared to single gene testing.

Where possible and/or necessary, we carry out additional MLPA analysis in order to detect deletions/duplications of the genes.