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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

19-C-0049

Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

Adults who are or may become unable to consent

Keywords

DNA Repair Genes;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Mesothelioma;
Families

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Cancer Institute

Background:

-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.

Objective:

-To learn how cancer might develop in people with certain gene mutations.

Eligibility:

-People ages 2 and older with a germline mutation in BAP1 or another gene that might cause cancer

Design:

-Participants will be screened with:

--Medical and family history

--Saliva test

-Participants with mesothelioma will be in the NIH Group. Participants without mesothelioma can choose to be in either the NIH Group or the Remote Group.

-Remote Group participants will have a medical and family history by phone. If they have tumor tissue from a previous surgery, it will be tested. They will be contacted once a year by phone.

-NIH Group participants will have a baseline visit. This can take up to 4 days. They may have to stay in the area overnight. The visit will include:

--Physical exam

--Evaluation of tumor tissue if available

--Optional tumor biopsy

--Blood tests

--Scans: A machine will take pictures of the body.

--Photographs of skin lesions or other issues

--Skin exam

--Eye exam

-NIH Group participants will have visits once or twice a year. These will include a physical exam, lab tests, scans, and other tests as needed.

-Participants who have a confirmed mutation will be asked to contact any relatives who may be at risk and ask them about joining the study.

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Eligibility

Inclusion Criteria:

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) that is listed on a commercially available, cancer-associated common or customized gene panel. 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:

--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 second degree biological relative with a CLIA confirmed germline mutation in BAP1 if relevant first degree relative is deceased or unavailable for testing,

OR

--A first degree biological relative with mesothelioma and a CLIA confirmed germline mutation in another DNA-repair/cancer predisposition gene that is listed on a commercially available, cancer-associated common or customized gene panel

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 BAP1 or TP53 mutation or with a first degree relative that has a germline mutation in TP53 or BAP1

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

All participants must understand and be willing to sign a written informed consent

Exclusion Criteria for Genetic Testing

None

Inclusion Criteria for Surveillance:

-Genetic testing criteria including age restrictions 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) that is listed on a commercially available, cancer-associated common or customized gene panel regardless of CLIA confirmation

-Subjects in Cohort 2 must have CLIA confirmed germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel

OR

-if germline status negative, have a biological relative that is enrolled for surveillance

Exclusion Criteria for Surveillance:

None


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Raffit Hassan, M.D.
National Cancer Institute (NCI)
NIHBC 10 - CRC BG RM 4-5330
10 CENTER DR
BETHESDA MD 20892
(240) 760-6232
rh276q@nih.gov

Maria Garcia G. Agra, R.N.
National Cancer Institute (NCI)
National Institutes of Health
Building 10
Room 8D44
10 Center Drive
Bethesda, Maryland 20892
(240) 858-3152
mariagracia.agra@nih.gov

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
1-888-NCI-1937

Clinical Trials Number:

NCT03830229

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