Noumea

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.

Researchers are evaluating the impact of liquid biopsy technology to improve treatment for patients with metastatic cancer receiving care in community hospitals. This prospective biomarker study aims to demonstrate how analyzing circulating tumor DNA ctDNA using a large gene panel and microsatellite instability testing can help guide personalized therapy decisions. The study includes patients with various metastatic solid tumors, including castration-resistant prostate cancer and certain types of metastatic breast cancer resistant to standard therapies. Participants will have a blood sample taken at the start of their first-line treatment, which may include chemotherapy, immunotherapy, endocrine therapy, or targeted therapy. The collected plasma samples will undergo Next Generation Sequencing NGS to detect gene alterations and MSI status. Results will be reviewed by a Molecular Tumor Board MTB that includes specialists from multiple centers to discuss treatment options based on the molecular profile. During the study, researchers will monitor the proportion of patients with successful ctDNA sequencing and how often molecular profiling information guides treatment. They will also evaluate response rates, survival outcomes, and the timing between liquid biopsy and therapy initiation over a follow-up period of 72 months. Patients will be assessed for measurable disease, performance status, and compliance with study procedures, including providing informed consent. The study carefully tracks safety and effectiveness of molecular-guided therapy in a community oncology setting.