Clinical trial NCT01925599: BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma
Official title: Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Choroidal Nevi, Uveal Melanoma
Keywords: Nevus
Choroidal Melanoma
BAP1 mutation
Lead sponsor: Greater Houston Retina Research
Sponsor class: OTHER
First posted: 2013-08-20
Enrollment: 133
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients age \> 18 years, diagnosed with choroidal nevi or uveal melanoma

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
timeFrame: 1 Year
Secondary outcomes:
Other outcomes:
Locations:
city: Houston
country: United States
facility: Retina Consultants of Houston
state: Texas
city: Katy
country: United States
facility: Retina Consultants of Houston
state: Texas
city: The Woodlands
country: United States
facility: Retina Consultants of Houston
state: Texas
Study officials:
affiliation: Retina Consultants Houston
name: Amy C. Schefler, MD
role: PRINCIPAL_INVESTIGATOR
References:
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.
citation: 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.
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. doi: 10.1016/s0304-3835(99)90004-6. No abstract available.
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.
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.
citation: 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.