Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Launched by MOHAMED ABDEL-RAHMAN · Mar 7, 2021

Keywords

ClinConnect Summary

This clinical trial is studying a genetic condition called BAP1 Hereditary Predisposition Syndrome, which can increase the risk of several types of cancer, including uveal melanoma (a type of eye cancer), cutaneous melanoma (skin cancer), and others like mesothelioma and kidney cancer. The goal of the research is to better understand how this condition affects patients and their families so that doctors can develop better screening and treatment strategies. By identifying individuals at high risk for these cancers, the study aims to help detect issues earlier, which can lead to improved treatment outcomes and potentially save lives.

To participate in the trial, you may be eligible if you have a personal or family history of certain cancers linked to the BAP1 syndrome. This includes having one cancer yourself and at least two family members with related cancers, or having had two cancers yourself. Participants will be monitored closely and can expect support and guidance throughout the study. It’s important to note that the study materials are currently only available in English, so non-English speakers may not be able to participate.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Patients who meet any of the following criteria:
• • 1. Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma.
• • 2. Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
• • 3. Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
• • 4. Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
• • 5. At risk relatives of a patient with documented BAP1 mutation.
• Exclusion Criteria:
• • Study material including consent forms are currently only available in English so non-English speaking subjects are excluding