Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

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Brief Title

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Official Title

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Brief Summary

      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.
    

Detailed Description

      BAP1 (BRCA1-associated protein-1), is a deubiquitinating enzyme with a ubiquitin
      carboxy-terminal hydrolase function that has been suggested to be a tumor suppressor gene
      with a role in cell proliferation and growth inhibition. Recently germline mutations in BAP1
      have been identified by our group and others in families with hereditary cancers. However,
      the clinical spectrum of cancers in patients with germline BAP1 is still not clear. The
      association of germline BAP1 mutations with increased risks for uveal melanoma (UM),
      mesothelioma, cutaneous melanoma (CM), renal cell carcinoma (RCC) and BAP1-inactivated
      melanocytic tumors is fairly well established. However, several other cancers have been
      reported in these patients and their family members including cholangiocarcinoma,
      hepatocellular carcinoma, meningioma, basal cell carcinoma and other internal malignancies.
      Identification of the clinical phenotype of BAP1-TPDS is important for proper counseling and
      management of patients.
    


Study Type

Observational


Primary Outcome

Prevalence of germline BAP1 variants in the unselected general population of cancer patients

Secondary Outcome

 Environmental risk factors modifying cancer risk

Condition

Uveal Melanoma


Study Arms / Comparison Groups

 Patients with personal and/or family history suggestive of hereditary BAP1
Description:  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, hepatocellular carcinoma and meningioma

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

500

Start Date

March 3, 2015

Completion Date

July 1, 2026

Primary Completion Date

July 1, 2026

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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Mohamed H Abdel-Rahman, MD, PhD, 614-292-1396, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT04792463

Organization ID

2014C0072


Responsible Party

Sponsor-Investigator

Study Sponsor

Mohamed Abdel-Rahman


Study Sponsor

Mohamed H Abdel-Rahman, MD, PhD, Principal Investigator, Ohio State University


Verification Date

March 2021