This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1. Our study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. Because the vast majority of UM develop in pre-existing nevi, characterization of individuals at high risk for development of UM will allow closer screening and earlier intervention which would improve the treatment outcome not only for retaining vision but also for overall survival. Similarly in patients with germline BAP1 mutation CM develops in premalignant atypical melanocytic lesions and careful follow up of these patients will improve the outcome of their disease. In addition this study could have impact on the management of patients with personal and/or family history of several other cancers reported in patients with germline BAP1 mutation such as mesothelioma, renal cell carcinoma, cholangiocarcinoma, hepatocellular carcinoma, meningioma and basal cell carcinoma.
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.
Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
Study material including consent forms are currently only available in English so non-English speaking subjects are excluding
Providers at OSU will identify eligible participants through clinical practice. Providers at other institutions who become aware of our research through presentations at conferences, publications, etc. may identify one of their patients as eligible or potentially eligible for the study and introduce the study to their patient.
Family-based
Prospective
Not listed
Prevalence of germline BAP1 variants in the unselected general population of cancer patients
Frequency of germline BAP1 pathogenic/likely pathogenic variants in different cancers
Clinical phenotypes (this includes premalignant lesions, tumor type and age of onset) in at risk blood-line family members of the patients
Questionnaire and chart review of the clinical phenotype
Questionnaire to assess environmental risk factors modifying cancer risk in patients
Measurement used: questionnaire for various environmental risk factors
Genotyping to assess genetic risk factors modifying risk of cancer
Genotyping for genetic variants that could modify the risk of cancer in subjects.
Disease outcome (response to treatment, prognosis including prognostic markers)
Chart review of disease outcome
Tumor pathology and genomics (including tumor grade, stage, somatic genomic alterations)
Review of pathology and study of genomics alterations in tumors
Click on the lead sponsor to view all of their trials.
Mohamed Abdel-Rahman
Lead sponsor
Ohio State University
Sponsor institution
