Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases

Pigment Cell and Melanoma Research

Volumn 26, Issue 2, 2013, Pages 278-279

  Aoude, Lauren G ^a   Vajdic, Claire M ^b   Kricker, Anne ^c   Armstrong, Bruce ^c,d   Hayward, Nicholas K ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d SAX INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA 1 ASSOCIATED PROTEIN 1; BRCA1 PROTEIN; UNCLASSIFIED DRUG;

DISEASE PREDISPOSITION; DNA EXTRACTION; EXON; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; LETTER; POLYMERASE CHAIN REACTION; PREVALENCE; SOMATIC MUTATION; UVEA MELANOMA;

DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MELANOMA; PREVALENCE; RISK FACTORS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE; UVEAL NEOPLASMS;

EID: 84874372159     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12046     Document Type: Letter

References (6)

1. Abdel-Rahman, M.H., Pilarski, R., Cebulla, C.M., Massengill, J.B., Christopher, B.N., Boru, G., Hovland, P., and Davidorf, F.H. (2011). Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J. Med. Genet. 48, 856-859.
2. Harbour, J.W., Onken, M.D., Roberson, E.D., Duan, S., Cao, L., Worley, L.A., Council, M.L., Matatall, K.A., Helms, C., and Bowcock, A.M. (2010). Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330, 1410-1413.
3. Njauw, C.N., Kim, I., Piris, A., Gabree, M., Taylor, M., Lane, A.M., Deangelis, M.M., Gragoudas, E., Duncan, L.M., and Tsao, H. (2012). Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS ONE 7, e35295.
4. Testa, J.R., Cheung, M., Pei, J. et al. (2011). Germline BAP1 mutations predispose to malignant mesothelioma. Nat. Genet. 43, 1022-1025.
5. Vajdic, C.M., Kricker, A., Giblin, M., Mckenzie, J., Aitken, J., Giles, G.G., and Armstrong, B.K. (2003). Incidence of ocular melanoma in Australia from 1990 to 1998. Int. J. Cancer 105, 117-122.
6. Wadt, K., Choi, J., Chung, J.Y. et al. (2012). A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res. 25, 815-818.