Study of BAP1 Hereditary Cancer Syndrome Frequency and Clinical Features Including Uveal Melanoma, Cutaneous Melanoma, and Other Related Cancers

What this Trial Is About

This research focuses on individuals who have a hereditary risk for various cancers due to mutations in the BAP1 gene. The study aims to better understand the clinical features and frequency of BAP1-related cancer syndrome, which includes cancers such as uveal melanoma, cutaneous melanoma, mesothelioma, renal cell carcinoma, and others. By characterizing those at high risk, the study hopes to improve screening, prevention, and treatment strategies for patients and their families with this hereditary condition. Participants include those with personal or family histories of cancers linked to BAP1 mutations, as well as individuals with documented BAP1 gene variants. The study is observational and does not involve treatment but collects detailed clinical and genetic information over time. The research will monitor the prevalence of BAP1 variants, clinical tumor features, and age of onset, while also assessing environmental and genetic factors that may influence cancer risk. Throughout the study, participants will provide medical history and family cancer information, complete questionnaires on environmental risks, and undergo genetic testing. Researchers will analyze tumor pathology and genetic changes to understand disease progression and treatment outcomes. The study spans multiple years, with primary outcomes measured over five years and secondary outcomes over ten years, aiming to provide comprehensive data to guide future management of BAP1 hereditary cancer syndrome.

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome