NCT01925599

BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 133 (actual)
• Sponsor: Amy C Schefler, MD · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Choroidal Nevi, Uveal Melanoma

Timeline

• Start date: 2013-07-01
• Primary completion: 2022-01-01
• Completion: 2022-01-01
• First posted: 2013-08-20
• Last updated: 2021-03-26

Locations

3 sites across 1 country: United States