Advanced search
Publication Cover
Ophthalmic Genetics Volume 36, 2015 - Issue 2
Submit an article Journal homepage
356
Views
30
CrossRef citations to date
0
Altmetric
Research Report

Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients

Colleen M. CebullaHavener Eye Institute, Department of Ophthalmology and Visual Science,
,
Elaine M. BinkleyHavener Eye Institute, Department of Ophthalmology and Visual Science,
,
Robert PilarskiDepartment of Internal Medicine, Division of Human Genetics,
,
James B. MassengillHavener Eye Institute, Department of Ophthalmology and Visual Science,
,
Karan RaiDepartment of Internal Medicine, Division of Human Genetics,
,
David A. LiebnerDepartment of Internal Medicine, Division of Medical Oncology, ;Department of Biomedical Informatics, The Ohio State University Wexner Medical Center, Columbus, OH, USA,
,
Meghan J. MarinoThe Cole Eye Institute, The Cleveland Clinic, Cleveland, OH, USA, and
,
Arun D. SinghThe Cole Eye Institute, The Cleveland Clinic, Cleveland, OH, USA, and
&
Mohamed H. Abdel-RahmanHavener Eye Institute, Department of Ophthalmology and Visual Science, ;Department of Internal Medicine, Division of Human Genetics, ;Department of Pathology, Menoufiya University, Shebin Elkom, EgyptCorrespondence[email protected]
 show all
Pages 126-131 | Received 04 Aug 2014, Accepted 18 Jan 2015, Published online: 17 Feb 2015

References

  • Popova T, Hebert L, Jacquemin V, et al. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013;92:974–980
  • Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011;43:1018–1021
  • Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011;43:1022–1025
  • Abdel-Rahman MH, Pilarski R, Cebulla CM, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011;48:856–859
  • Hoiom V, Edsgard D, Helgadottir H, et al. Hereditary uveal melanoma: a report of a germline mutation in BAP1. Genes Chromosomes Cancer 2013;52:378–384
  • Singh AD, Topham A. Incidence of uveal melanoma in the United States: 1973–1997. Ophthalmology 2003;110:956–961
  • Singh AD, Shields CL, Shields JA, Sato T. Uveal melanoma in young patients. Arch Ophthalmol 2000;118:918–923
  • Singh AD, Shields CL, De Potter P, et al. Familial uveal melanoma. Clinical observations on 56 patients. Arch Ophthalmol 1996;114:392–399
  • Abdel-Rahman MH, Pilarski R, Ezzat S, et al. Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma. Fam Cancer 2010;9:431–438
  • Miller SA, Dykes DD, Polesky HFrn. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215
  • Abdel-Rahman MH, Pilarski R, Massengill JB, et al. Melanoma candidate genes CDKN2A/p16/INK4A, p14ARF, and CDK4 sequencing in patients with uveal melanoma with relative high-risk for hereditary cancer predisposition. Melanoma Res 2011;21:175–179
  • Pilarski R, Cebulla CM, Massengill JB, et al. Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. Genes Chromosomes Cancer 2014;53:177–182
  • Shields CL, Kaliki S, Arepalli S, et al. Uveal melanoma in children and teenagers. Saudi J Ophthalmol 2013;27:197–201
  • Hampel H, Sweet K, Westman JA, et al. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet 2004;41:81–91
  • van Hees CL, de Boer A, Jager MJ, et al. Are atypical nevi a risk factor for uveal melanoma? A case-control study. J Invest Dermatol 1994;103:202–205
  • Cruz C, Teule A, Caminal JM, et al. Uveal melanoma and BRCA1/BRCA2 genes: a relationship that needs further investigation. J Clin Oncol 2011;29:e827–829
  • Buecher B, Gauthier-Villars M, Desjardins L, et al. Contribution of CDKN2A/P16 (INK4A), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma. Fam Cancer 2010;9:663–667
  • Abdel-Rahman MH, Pilarski R, Massengill JB, et al. Lack of GNAQ germline mutations in uveal melanoma patients with high risk for hereditary cancer predisposition. Fam Cancer 2011;10:319--321
  • Hearle N, Damato BE, Humphreys J, et al. Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. Invest Ophthalmol Vis Sci 2003;44:458–462
  • Scott RJ, Vajdic CM, Armstrong BK, et al. BRCA2 mutations in a population-based series of patients with ocular melanoma. Int J Cancer 2002;102:188–191
  • Iscovich J, Abdulrazik M, Cour C, et al. Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma patients. Int J Cancer 2002;98:42–44
  • Sinilnikova OM, Egan KM, Quinn JL, et al. Germline BRCA2 sequence variants in patients with ocular melanoma. Int J Cancer 1999;82:325–328

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.