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

ABSTRACT: A hereditary cancer syndrome is a genetic predisposition to cancer caused by a germline mutation in cancer-related genes. Identifying the disease-causing variant is important for both the patient and relatives at risk in cancer families because this could be a guide in treatment and secondary cancer prevention. 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 the

SUBMITTER: Ercoskun P 

PROVIDER: S-EPMC8928213 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature