BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma
| Status: | Recruiting |
|---|---|
| Conditions: | Skin Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 4/21/2016 |
| Start Date: | July 2013 |
| End Date: | January 2017 |
| Contact: | Amy C Schefler, MD |
| Email: | acsmd@houstonretina.com |
| Phone: | 713-524-3434 |
Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
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.
melanoma for a germline BAP1 mutation and other genetic markers associated with developing
malignancy as well as additional sequencing of the uveal melanoma genome.
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.
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.
Inclusion Criteria:
any person with choroidal nevi
- Willingness to provide signed informed consent
- Age > 18 years
- Diagnosis of choroidal nevi or uveal melanoma
We found this trial at
3
sites
The Woodlands, Texas 77384
Principal Investigator: Amy Schefler, MD
Phone: 713-524-3434
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Houston, Texas 77030
Principal Investigator: Amy C Schefler, MD
Phone: 713-524-3434
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Katy, Texas 77494
Principal Investigator: Amy Schefler, MD
Phone: 713-524-3434
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