Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients

Ophthalmic Genetics

Volumn 36, Issue 2, 2015, Pages 126-131

  Cebulla, Colleen M ^a   Binkley, Elaine M ^a   Pilarski, Robert ^b   Massengill, James B ^a   Rai, Karan ^b   Liebner, David A ^a,c   Marino, Meghan J ^d   Singh, Arun D ^d   Abdel Rahman, Mohamed H ^a,b,e  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b Division of Human Cancer Genetics   (United States)

^c Department of Internal Medicine Division of Medical Oncology Starling Loving Hall   (United States)

^d LERNER RESEARCH INSTITUTE   (United States)

^e MENOUFIA UNIVERSITY   (Egypt)

Author keywords

BAP1; Familial cancer; Uveal melanoma

Indexed keywords

BRCA1 PROTEIN; CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; BAP1 PROTEIN, HUMAN; CDK4 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN THIOLESTERASE;

ADULT; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; BREAST CANCER; CANCER INCIDENCE; CANCER OF UNKNOWN PRIMARY SITE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; COLON CANCER; CUTANEOUS MELANOMA; DISEASE PREDISPOSITION; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILIAL CANCER; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GERMLINE MUTATION; HUMAN; INFANT; INTRON; LYMPHOMA; MALE; MELANOMA; MIDDLE AGED; PATHOGENICITY; PATIENT IDENTIFICATION; PREVALENCE; PRIORITY JOURNAL; PROSTATE CANCER; TUMOR VOLUME; UVEA MELANOMA; ADOLESCENT; GENETIC PREDISPOSITION; GENETICS; PEDIGREE; UVEA TUMOR; YOUNG ADULT;

ADOLESCENT; ADULT; CYCLIN-DEPENDENT KINASE 4; CYCLIN-DEPENDENT KINASE INHIBITOR P16; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; INFANT; MALE; MELANOMA; PEDIGREE; PREVALENCE; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE; UVEAL NEOPLASMS; YOUNG ADULT;

EID: 84931837678     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2015.1010734     Document Type: Article

References (22)

1. Popova T, Hebert L, Jacquemin V, et al. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013;92:974-980.
2. Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011;43:1018-1021.
3. Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011;43: 1022-1025.
4. 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.
5. 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.
6. Singh AD, Topham A. Incidence of uveal melanoma in the United States: 1973-1997. Ophthalmology 2003;110: 956-961.
7. Singh AD, Shields CL, Shields JA, Sato T. Uveal melanoma in young patients. Arch Ophthalmol 2000;118:918-923.
8. Singh AD, Shields CL, De Potter P, et al. Familial uveal melanoma. Clinical observations on 56 patients. Arch Ophthalmol 1996;114:392-399.
9. 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.
10. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
11. 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.
12. 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.
13. Shields CL, Kaliki S, Arepalli S, et al. Uveal melanoma in children and teenagers. Saudi J Ophthalmol 2013;27: 197-201.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. Sinilnikova OM, Egan KM, Quinn JL, et al. Germline BRCA2 sequence variants in patients with ocular melanoma. Int J Cancer 1999;82:325-328.