Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

A gene provides instructions to the body. Mutated genes can sometimes cause cancer. Germline mutations are those people are born with. These mutations in the BAP1 gene can cause mesothelioma and other cancers. Researchers want to study people with germline mutations of BAP1 and other genes known to cause cancer.

Primary Outcome Measures

  • Incidence and frequencies of Cancers [ Time Frame: ongoing ]
    Standard exploratory and descriptive measures will be used. Counts, incidence, and frequencies of cancers identified via screening procedures on this trial will be reported, all in the context of an exploratory study with appropriate caveats.
Inclusion Criteria for genetic testing
  • Cohort 1:
Subject with pathology confirming a diagnosis of mesothelioma.
Subject must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion.

OR

-Subject with mesothelioma otherwise eligible for genetic testing in Cohort 2

OR

Subject must have deleterious germline mutation in another DNA repair/cancer predisposition gene(s). Results from either research or clinical analyses are sufficient for this criterion.

Age greater than or equal to 2 years

  • Cohort 2
Individual with a germline BAP1 mutation who does not have a history of mesothelioma (other cancers are allowed). Results from either research or clinical analyses are sufficient for this criterion.
OR

-Individual with no history of mesothelioma with either:

—A biological first degree relative (living or deceased) with a history of mesothelioma

OR

—A first degree biological relative with a CLIA confirmed germline mutation in BAP1

OR

—A first degree biological relative with mesothelioma and a CLIA confirmed germline mutation in another DNA-repair/cancer predisposition gene.

OR

A second degree biological relative with mesothelioma and a CLIA confirmed germline mutation in BAP1)

-Age:

Greater than or equal to 2 years for subjects with a first degree relative that has a germline mutation in p53

Greater than or equal to 16 years for all other eligible potential mutations

All participants or their legally authorized representatives (LARs) must understand and be willing to sign a written informed consent
Inclusion Criteria for Surveillance
genetic testing criteria for respective cohorts must be met

Subjects in Cohort 1 may be enrolled with positive results for germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) regardless of CLIA confirmation

Subjects in Cohort 2 must have CLIA confirmed germline BAP1 mutation or another DNA repair/cancer predisposition gene(s)

« Mesothelioma Clinical Trials Main Page.

Source: the U.S. National Institutes of Health via ClinicalTrials.gov. Last updated: February 8th, 2019.

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Last update: January 19, 2018. 04:57:31 pm.