Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing

In this study, hereditary cancer panel harboring cancer-related genes was performed on MiSeq Illumina NGS system from peripheral blood samples. Sequencing files were fed into a cloud-based data analysis pipeline. Reportable variants were classified according to the American College of Medical Genetics and Genomics guidelines. Three hundred five individuals were included in the study. Different pathogenic/likely pathogenic variants were detected in 75 individuals. The majority of these variants were in theMUTYH,BRCA2, andCHEK2 genes. Nine novel pathogenic/likely pathogenic variants were identified inBRCA1,BRCA2,GALNT12,ATM,MLH1,MSH2,APC, andKIT genes. We obtained interesting and novel variants which could be related to hereditary cancer, and this study confirmed that NGS is an indispensable method for the risk assessment in cancer families.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research