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BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

A

Amy C Schefler, MD

Status

Unknown

Conditions

Choroidal Nevi, Uveal Melanoma

Study type

Observational

Funder types

Other

Identifiers

Details and patient eligibility

About

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.

Full 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.

Enrollment

133 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

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.

Trial contacts and locations

3

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Data sourced from clinicaltrials.gov

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