BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

NCT ID: NCT01925599

Last Updated: 2021-03-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

133 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-31

Study Completion Date

2022-01-31

Brief Summary

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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

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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

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Choroidal Nevi, Uveal Melanoma

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Amy C Schefler, MD

OTHER

Sponsor Role lead

Responsible Party

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Amy C Schefler, MD

Director of Ophthalmic Oncology

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Amy C. Schefler, MD

Role: PRINCIPAL_INVESTIGATOR

Retina Consultants Houston

Locations

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Retina Consultants of Houston

Houston, Texas, United States

Site Status

Retina Consultants of Houston

Katy, Texas, United States

Site Status

Retina Consultants of Houston

The Woodlands, Texas, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND
PMID: 21704381 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 16154197 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 10546591 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 18757409 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 23915344 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 21941004 (View on PubMed)

Other Identifiers

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BAP101

Identifier Type: -

Identifier Source: org_study_id

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