Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT04431024

Conditions

Familial Cancer

BRCA1-Associated Protein-1 (BAP1) Mutations

Tumor Predisposition Syndrome (TPDS)

Mesothelioma

Eligibility Criteria

Sex: All

Age: 30 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

Background:

A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring. Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers. Researchers want to follow people with these mutations to learn more.

Objective:

To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time.

Eligibility:

People age 30 and older who are suspected to have a BAP1 germline mutation.

Design:

Participants will be screened with a personal and family medical history. Their medical records may be reviewed. They will give a blood or saliva sample to test for a BAP1 mutation. They will get genetic counseling.

To take part in this study, participants will enroll on 2 to 3 other protocols.

Participants will have a physical exam. They may have a tumor biopsy. They will give blood and urine samples. They will have skin and eye exams.

Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas. For this, a small camera is inserted into the chest through a small incision.

Some participants will have laparoscopy to examine the organs inside the abdomen. For this, a small camera is inserted into the abdomen through a small incision.

Participants will have imaging scans of the chest, abdomen, and pelvis. They may have brain scans.

Participants will visit the NIH once a year for follow-up exams.

Participation lasts indefinitely.

Conditions

Familial Cancer

BRCA1-Associated Protein-1 (BAP1) Mutations

Tumor Predisposition Syndrome (TPDS)

Mesothelioma

Study ID

NCT04431024

Start date

Mar 30, 2021

Status verified date

Aug 10, 2026

Completion date

Jun 30, 2038

Anticipated

Primary completion date

Jun 30, 2038

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 30 - 70+

Healthy Volunteers: Accepted

  • ELIGIBILITY CRITERIA:

Inclusion Criteria for Genetic Testing

-Eligible participants include:

--Individuals with a history of any malignancy with known or suspected germline mutations involving BAP1

OR

--First- or second-degree relatives of patients (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)

  • Age >= 30 years.
  • All participants must understand and be willing to sign a written informed consent document.

Inclusion Criteria for Surveillance

  • Eligible participants include those who completed step 1 genetic testing with study-confirmed BAP1 or other germline TPDS mutation.
  • Completed co-enrollment on protocol 06C0014, "Prospective Evaluation of Genetic and Epigenetic Alterations in Patients with Thoracic Malignancies."

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

Cancer patients

Individuals with history of cancer and detected or suspected germline mutation in BAP1 TPDS

Relatives of cancer patients

First- or second-degree relatives of a cancer patient (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)

Primary outcome measure

  • Prospectively gather information related to the use of dual energy computed tomographic imaging (DECT) together with minimally invasive surveillance for early detection of mesotheliomas in patients with BAP1 TPDS [ Time Frame: annual or biennial follow-up, 5 years interim analysis ]

Central Contacts and Locations

Central contacts

Rebecca B Alexander

(240) 781-4037rebecca.alexander@nih.gov

David S Schrump, M.D.

(240) 760-6239david_schrump@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

888-624-1937

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Sep 8, 2026

Last verified

Aug 10, 2026

Keywords

  • Germline Mutation in the BAP1 Gene
  • BRCA1-Associated Protein-1
  • Genetics
  • Familial Background
  • Natural History
  • DECT

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-09-08.