Multigene NGS panels and cancer susceptibility syndromes – a study report.

Introduction. Since the beginning of the 1990s, with the discovery of the first “cancer genes”, numerous genetic factors have been identified through a great number of studies to be associated with the susceptibility for hereditary cancers. Hundreds of genes have been detected, with thousands of variants involved in the development of the disease. Next Generation Sequencing (NGS) technology has been the most important tool in cancer research and cancer diagnosis as well, during the past decades. Most of the laboratories worldwide use multigene NGS panels to identify the genetic causes or the genetic predisposition for cancer. Materials and method. NGS sequencing on an Illumina platform has been performed using multigene panels for the different types of cancer. The study included individuals tested during February-September 2021. Results. Apart from the BRCA1 and BRCA2 genes mutations, identified in the greater majority of cases, pathogenic variants in other genes, such as PALB2, CHEK2, MSH6, MLH1, ATM, NF1 etc., have been detected. The most frequent pathology identified in our cohort was breast cancer, followed by colorectal and ovarian cancers. Other types of cancer reported in these individuals were melanoma, cerebral tumors, pancreatic cancer, endocrine tumors, renal cancer, gastrointestinal tumors and prostate cancer. Conclusions. NGS panels are the test of choice for the diagnosis of the disease in hereditary cancer patients and for identifying the risk for developing the disease in healthy individuals. Both pre-testing and post-testing genetic counseling are of great importance for the selection of patients for genetic testing and for choosing the most eloquent genetic test for each individual in particular, and also for the clinical interpretation of the results, which in many cases may raise numerous problems and discussions. [ABSTRACT FROM AUTHOR]