Study of Family COsegregation of Nucleotide VARiants in Panel of Genes to Validate Their Use in Genetic Counseling

What this Trial Is About

This research aims to improve genetic counseling by classifying gene variants found in families with a history of hereditary cancers, especially breast and ovarian cancer. Initially focused on BRCA1 and BRCA2 genes, the study now includes multiple genes from a large French oncogenetics database, covering thousands of families and variants. The goal is to better understand which gene variants are linked to cancer risk and to refine how these variants are classified for clinical use. Participants include index cases carrying specific gene variants and their family members. The study collects saliva samples from relatives to test for the presence of these variants, particularly those classified as uncertain significance (class 3), likely pathogenic (class 4), or hypomorphic pathogenic (class 5). Genetic analyses are performed by specialized laboratories, and data from multiple families is combined to assess how these variants co-segregate with cancer occurrence. Throughout the study, researchers analyze genetic data using statistical models to estimate the likelihood that certain variants cause cancer. They use anonymous results for overall variant classification and share findings with families when variants are found to be pathogenic. This helps guide genetic counseling, possible preventive measures, and clinical management. The study spans up to 15 years and continuously updates classification methods and clinical recommendations based on new data.

COsegregation of VARiants in Panel of Genes