BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

NCT01925599 | Unknown

• 1 other identifier: BAP101
• Study Type: observational
• Target: 133
• Locations: 1 country
• Sites: 3

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.

Conditions

Choroidal Nevi, Uveal Melanoma

Keywords

Nevus; Choroidal Melanoma; BAP1 mutation

Outcome Measures

Primary Outcomes (1)

• Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi

  1 Year

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients age \> 18 years, diagnosed with choroidal nevi or uveal melanoma

You may qualify if:

• any person with choroidal nevi
• Willingness to provide signed informed consent
• Age \> 18 years
• Diagnosis of choroidal nevi or uveal melanoma

Sponsors & Collaborators

• Amy C Schefler, MD: lead

Study Sites (3)

Retina Consultants of Houston

Houston, Texas, 77030, United States

Location

Retina Consultants of Houston

Katy, Texas, 77494, United States

Location

Retina Consultants of Houston

The Woodlands, Texas, 77384, United States

Location

Related Publications (6)

• 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.

  PMID: 21704381 BACKGROUND

• Singh AD, Kalyani P, Topham A. Estimating the risk of malignant transformation of a choroidal nevus. Ophthalmology. 2005 Oct;112(10):1784-9. doi: 10.1016/j.ophtha.2005.06.011.

  PMID: 16154197 BACKGROUND

• 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. doi: 10.1016/s0304-3835(99)90004-6. No abstract available.

  PMID: 10546591 BACKGROUND

• 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.

  PMID: 18757409 BACKGROUND

• 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.

  PMID: 23915344 BACKGROUND

• 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.

  PMID: 21941004 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood

MeSH Terms

Conditions

Uveal Melanoma; Nevus

Condition Hierarchy (Ancestors)

Melanoma; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Nevi and Melanomas; Uveal Neoplasms; Eye Neoplasms; Neoplasms by Site; Eye Diseases; Uveal Diseases

Study Officials

• Amy C. Schefler, MD

  Retina Consultants Houston

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Director of Ophthalmic Oncology

Study Record Dates

• First Submitted: August 15, 2013
• First Posted: August 20, 2013
• Study Start: July 1, 2013
• Primary Completion: January 1, 2022
• Study Completion: January 1, 2022
• Last Updated: March 26, 2021

Record last verified: 2021-03

Locations

US (3)