BAP1 germline mutation in two first grade family members with uveal melanoma

British Journal of Ophthalmology

Volumn 98, Issue 2, 2014, Pages 224-227

  Maerker, David A ^a   Zeschnigk, Michael ^b   Nelles, Jasmin ^b   Lohmann, Dietmar R ^b   Worm, Karl ^b   Bosserhoff, Anja K ^a   Krupar, Rosemarie ^a   Jägle, Herbert ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BAP1 GENE; BILE DUCT CARCINOMA; CARCINOGENESIS; CASE REPORT; CHROMOSOME 3; DNA SEQUENCE; ENUCLEATION; EXON; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; HUMAN; HUMAN TISSUE; LIVER METASTASIS; MALE; MICROSATELLITE MARKER; MIDDLE AGED; MONOSOMY; PRIORITY JOURNAL; TRANSITIONAL CELL CARCINOMA; TUMOR SUPPRESSOR GENE; UVEA MELANOMA;

CHOROID; CILIARY BODY; GENETICS; NEOPLASIA; RETINA;

BIOPSY; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FAMILY; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PROGNOSIS; RETROSPECTIVE STUDIES; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE; UVEAL NEOPLASMS;

EID: 84892601745     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2013-303814     Document Type: Article

References (18)

1. Landreville S, Agapova OA, Harbour JW. Emerging insights into the molecular pathogenesis of uveal melanoma. Future Oncol 2008; 4: 629-36.
2. Harbour JW. The genetics of uveal melanoma: an emerging framework for targeted therapy. Pigment Cell Melanoma Res 2012; 25: 171-81.
3. Singh AD, Shields CL, De Potter P, et al. Familial uveal melanoma. Clinical observations on patients. Arch Ophthalmol 1996; 114: 392-9.
4. Barker-Griffith AE, Streeten BW. Familial uveal melanoma: a report of four cases in two families and literature review. Canadian journal of ophthalmology. Can J Ophthalmol 2004; 39: 403-8. (Pubitemid 38886335)
5. Kodjikian L, Nguyen K, Lumbroso L, et al. Familial uveal melanoma: a report on two families and a review of the literature. Acta Ophthalmol Scand 2003; 81: 389-95. (Pubitemid 36926868)
6. Smith JH, Padnick-Silver L, Newlin A, et al. Genetic study of familial uveal melanoma: association of uveal and cutaneous melanoma with cutaneous and ocular nevi. Ophthalmology 2007; 114: 774-9. (Pubitemid 46505166)
7. Prescher G, Bornfeld N, Hirche H, et al. Prognostic implications of monosomy in uveal melanoma. Lancet 1996; 347: 1222-5. (Pubitemid 26131850)
8. Jensen DE, Proctor M, Marquis ST, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene 1998; 16: 1097-112. (Pubitemid 28127509)
9. Misaghi S, Ottosen S, Izrael-Tomasevic A, et al. Association of C-terminal ubiquitin hydrolase BRCA1-associated protein with cell cycle regulator host cell factor 1. Mol Cell Biol 2009; 29: 2181-92.
10. Nishikawa H, Wu W, Koike A, et al. BRCA1-associated protein interferes with BRCA1/BARD1 RING heterodimer activity. Cancer Res 2009; 69: 111-19.
11. 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: e827-9.
12. Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010; 330: 1410-13.
13. 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: 856-9.
14. Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011; 43: 1018-21.
15. Tschentscher F, Prescher G, Zeschnigk M, et al. Identification of chromosomes 3, 6, and aberrations in uveal melanoma by microsatellite analysis in comparison with comparative genomic hybridization. Cancer Genet Cytogenet 2000; 122: 13-17.
16. Martin M, Masshofer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013; 45: 933-6.
17. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-9.
18. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-81.