BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

Choroidal Nevi, Uveal Melanoma Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01925599
• Other study ID #: BAP101
• Status: Active, not recruiting
• Start date: July 2013
• Est. completion date: January 2022

Study information

• Verified date: March 2021
• Source: Greater Houston Retina Research
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 133
• Est. completion date: January 2022
• Est. primary completion date: January 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Choroidal Nevi, Uveal Melanoma
• Melanoma
• Nevus
• Uveal Neoplasms

Locations

Country	Name	City	State
United States	Retina Consultants of Houston	Houston	Texas
United States	Retina Consultants of Houston	Katy	Texas
United States	Retina Consultants of Houston	The Woodlands	Texas

Sponsors (1)

Lead Sponsor	Collaborator
Amy C Schefler, MD

Country where clinical trial is conducted

United States, 

References & Publications (6)

Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet. 2011 Dec;48(12):856-9. doi: 10.1136/jmedgenet-2011-100156. Epub 2011 Sep 22. — View Citation

Jensen DE, Rauscher FJ 3rd. Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1. Cancer Lett. 1999 Sep;143 Suppl 1:S13-7. Review. — View Citation

Matatall KA, Agapova OA, Onken MD, Worley LA, Bowcock AM, Harbour JW. BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. BMC Cancer. 2013 Aug 5;13:371. doi: 10.1186/1471-2407-13-371. — View Citation

Singh AD, Kalyani P, Topham A. Estimating the risk of malignant transformation of a choroidal nevus. Ophthalmology. 2005 Oct;112(10):1784-9. Review. — View Citation

Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology. 2011 Sep;118(9):1881-5. doi: 10.1016/j.ophtha.2011.01.040. Epub 2011 Jun 24. Review. — View Citation

Ventii KH, Devi NS, Friedrich KL, Chernova TA, Tighiouart M, Van Meir EG, Wilkinson KD. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res. 2008 Sep 1;68(17):6953-62. doi: 10.1158/0008-5472.CAN-08-0365. — View Citation

Outcome

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