BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01925599

Enrollment

133

Registered

2013-08-20

Start date

2013-07-31

Completion date

2022-01-31

Last updated

2021-03-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Choroidal Nevi, Uveal Melanoma

Keywords

Nevus, Choroidal Melanoma, BAP1 mutation

Brief summary

The BAP1 trial will examine the blood of patients diagnosed with choroidal nevi or uveal melanoma for a germline BAP1 mutation and other genetic markers associated with developing malignancy as well as additional sequencing of the uveal melanoma genome.

Detailed description

A germline BAP1 mutation predisposes a person to developing uveal melanoma and other cancers. If a mutation is discovered, it changes the potential approach to managing the nevus. In the presence of a known genomic change associated with aggressive disease, closer follow up and more aggressive treatment could preserve the patient's vision and prevent micrometastatic spread. This new screening technique will be able to extend the length and quality of life of patients with more frequent targeted cancer screens.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

any person with choroidal nevi * Willingness to provide signed informed consent * Age \> 18 years * Diagnosis of choroidal nevi or uveal melanoma Threre are no exclusionary criteria for this study.

Design outcomes

Primary

Measure	Time frame
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi	1 Year

Countries

United States

Outcome results