title: MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION.
abstract: OBJECTIVE
  To report a case of unilateral multifocal melanoma in a patient with germ line BRCA-associated protein 1 mutation.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  A 67-year-old white woman with a family history of lung and liver cancers developed blurred visual acuity of 20/30 in the left eye. She was discovered to have two independent pigmented choroidal melanomas in the macula and superotemporally, both demonstrating overlying subretinal fluid and orange pigment. Both melanomas were treated with a single custom-designed Iodine 125 brachytherapy device. Upon systemic evaluation, asymptomatic renal cell carcinoma was found, and blood lymphocyte testing for germ line BRCA-associated protein 1 mutation was positive.
  
  
  CONCLUSIONS
  Multifocal choroidal melanoma is exceedingly rare. Patients with uveal melanoma, especially if multifocal, and those with other systemic malignancy or family history of cancers should be tested for germ line BRCA-associated protein 1 mutation. Lifelong monitoring for other systemic malignancies is advised.
authors.affiliation: Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
authors.forename: Raksha
authors.initials: R
authors.lastname: Rao
authors.affiliation: Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
authors.forename: Renelle
authors.initials: R
authors.lastname: Pointdujour-Lim
authors.affiliation: Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Arupa
authors.initials: A
authors.lastname: Ganguly
authors.affiliation: Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
authors.forename: Carol L
authors.initials: CL
authors.lastname: Shields
mesh_terms: D000368:Aged; D002829:Choroid / Q000000981:diagnostic imaging*; D002830:Choroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D041623:Tomography, Optical Coherence; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism; D043222:Ubiquitin Thiolesterase / Q000235:genetics* / Q000378:metabolism; D014463:Ultrasonography
chemical_list: C400134:BAP1 protein, human; D004273:DNA, Neoplasm; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase