Mutations in GNA11 in uveal melanoma

New England Journal of Medicine

Volumn 363, Issue 23, 2010, Pages 2191-2199

  Van Raamsdonk, Catherine D ^a   Griewank, Klaus G ^b   Crosby, Michelle B ^b   Garrido, Maria C ^b   Vemula, Swapna ^b   Wiesner, Thomas ^d   Obenauf, Anna C ^d   Wackernagel, Werner ^d   Green, Gary ^b   Bouvier, Nancy ^b,e   Sozen, M Mert ^f   Baimukanova, Gail ^b   Roy, Ritu ^c   Heguy, Adriana ^e   Dolgalev, Igor ^e   Khanin, Raya ^e   Busam, Klaus ^e   Speicher, Michael R ^d,e   O'Brien, Joan ^b,c   Bastian, Boris C ^b,c,e  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

^e MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; LEUCINE; MITOGEN ACTIVATED PROTEIN KINASE; GNA11 PROTEIN, HUMAN; GNAQ PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLUE NEVUS; CANCER LOCALIZATION; CANCER PROGNOSIS; CANCER SURVIVAL; CONGENITAL NEVUS; ENZYME ACTIVATION; EXON; GENE; GENE FREQUENCY; GENE FUNCTION; GENE SEQUENCE; GNA11 GENE; GNAQ GENE; JUVENILE MELANOMA; METASTASIS; MOLECULAR PATHOLOGY; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION; TUMOR GENE; UVEA MELANOMA; ANIMAL; CANCER TRANSPLANTATION; CELL CULTURE; GENETICS; HUMAN; MELANOCYTE; MELANOMA; MORTALITY; MUTATION; NEVUS; NUCLEOTIDE SEQUENCE; PROGNOSIS; SURVIVAL; UVEA TUMOR;

ANIMALS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXONS; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; MELANOCYTES; MELANOMA; MICE; MUTATION; NEOPLASM TRANSPLANTATION; NEVUS; NEVUS, BLUE; PROGNOSIS; SURVIVAL ANALYSIS; UVEAL NEOPLASMS;

EID: 78651446131     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1000584     Document Type: Article

References (36)

1. Singh AD, Bergman L, Seregard S. Uveal melanoma: epidemiologic aspects. Ophthalmol Clin North Am 2005;18:75- 84.
2. Saldanha G, Purnell D, Fletcher A, Potter L, Gillies A, Pringle JH. High BRAF mutation frequency does not characterize all melanocytic tumor types. Int J Cancer 2004;111:705-10. (Pubitemid 39062892)
3. Zuidervaart W, van Nieuwpoort F, Stark M, et al. Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS. Br J Cancer 2005;92:2032-8. (Pubitemid 40897426)
4. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-54. (Pubitemid 34716871)
5. Pollock PM, Harper UL, Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003;33:19-20. (Pubitemid 36068675)
6. Horsman DE, White VA. Cytogenetic analysis of uveal melanoma: consistent occurrence of monosomy 3 and trisomy 8q. Cancer 1993;71:811-9. (Pubitemid 23051386)
7. White VA, Chambers JD, Courtright PD, Chang WY, Horsman DE. Correlation of cytogenetic abnormalities with the outcome of patients with uveal melanoma. Cancer 1998;83:354-9. (Pubitemid 28317816)
8. Singh AD, De Potter P, Fijal BA, Shields CL, Shields JA, Elston RC. Lifetime prevalence of uveal melanoma in white patients with oculo(dermal) melanocytosis. Ophthalmology 1998;105:195-8. (Pubitemid 28070622)
9. Van Raamsdonk CD, Fitch KR, Fuchs H, de Angelis MH, Barsh GS. Effects of G-protein mutations on skin color. Nat Genet 2004;36:961-8. (Pubitemid 39167492)
10. Fitch KR, McGowan KA, van Raamsdonk CD, et al. Genetics of dark skin in mice. Genes Dev 2003;17:214-28. (Pubitemid 36105894)
11. Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457:599-602.
12. Neves SR, Ram PT, Iyengar R. G protein pathways. Science 2002;296:1636-9. (Pubitemid 34579147)
13. Markby DW, Onrust R, Bourne HR. Separate GTP binding and GTPase activating domains of a G alpha subunit. Science 1993;262:1895-901.
14. Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989; 340:692-6. (Pubitemid 19214389)
15. Sondek J, Lambright DG, Noel JP, Hamm HE, Sigler PB. GTPase mechanism of Gproteins from the 1.7-A crystal structure of transducin alpha-GDP-AIF-4. Nature 1994;372:276-9. (Pubitemid 2152279)
16. Kalinec G, Nazarali AJ, Hermouet S, Xu N, Gutkind JS. Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. Mol Cell Biol 1992;12:4687-93.
17. Küsters-Vandevelde HV, Klaasen A, Küsters B, et al. Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. Acta Neuropathol 2009 November 22 (Epub ahead of print).
18. Lamba S, Felicioni L, Buttitta F, et al. Mutational profile of GNAQQ209 in human tumors. PLoS One 2009;4(8):e6833.
19. Onken MD, Worley LA, Long MD, et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci 2008;49:5230-4.
20. Bauer J, Kilic E, Vaarwater J, Bastian BC, Garbe C, de Klein A. Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer 2009;101:813-5.
21. Lyons J, Landis CA, Harsh G, et al. Two G protein oncogenes in human endocrine tumors. Science 1990;249:655-9. (Pubitemid 20259082)
22. Bennett DC, Cooper PJ, Hart IR. A line of non-tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth. Int J Cancer 1987;39:414-8. (Pubitemid 17038200)
23. Hocker T, Tsao H. Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants. Hum Mutat 2007;28:578-88. (Pubitemid 46744288)
24. Pfeifer GP, You YH, Besaratinia A. Mutations induced by ultraviolet light. Mutat Res 2005;571:19-31. (Pubitemid 40313429)
25. Pleasance ED, Cheetham RK, Stephens PJ, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 2010;463:191-6.
26. Zembowicz A, Mihm MC. Dermal dendritic melanocytic proliferations: an update. Histopathology 2004;45:433-51. (Pubitemid 39524318)
27. Orth JH, Preuss I, Fester I, Schlosser A, Wilson BA, Aktories K. Pasteurella multocida toxin activation of heterotrimeric G proteins by deamidation. Proc Natl Acad Sci U S A 2009;106:7179-84.
28. Offermanns S, Zhao LP, Gohla A, Sarosi I, Simon MI, Wilkie TM. Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. EMBO J 1998;17:4304-12. (Pubitemid 28362621)
29. Abramson DH, Schefler AC, Dunkel IR, McCormick B, Dolphin KW. Adult ophthalmic oncology: ocular diseases. In: Kufe DW, Pollock RE, Weichselbaum RR, et al., eds. Cancer medicine-6. Vol. 2. Hamilton, ON, Canada: BC Decker, 2003:1242-4. (http://www.ncbi.nlm.nih.gov/bookshelf/ br.fcgi?book= cmed6&part=A20124.)
30. Takasaki J, Saito T, Taniguchi M, et al. A novel Galphaq/11-selective inhibitor. J Biol Chem 2004;279:47438-45.
31. Adameyko I, Lallemend F, Aquino JB, et al. Schwann cell precursors from nerve innervation are a cellular origin of melanocytes in skin. Cell 2009;139:366-79.
32. Vajdic CM, Kricker A, Giblin M, et al. Sun exposure predicts risk of ocular melanoma in Australia. Int J Cancer 2002; 101:175-82. (Pubitemid 34970910)
33. Mainster MA, Turner PL. Ultraviolet-B phototoxicity and hypothetical photomelanomagenesis: intraocular and crystalline lens photoprotection. Am J Ophthalmol 2010;149:543-9.
34. Mudhar HS, Parsons MA, Sisley K, Rundle P, Singh A, Rennie IG. A critical appraisal of the prognostic and predictive factors for uveal malignant melanoma. Histopathology 2004;45:1-12. (Pubitemid 38969556)
35. Singh AD, Rennie IG, Seregard S, Giblin M, McKenzie J. Sunlight exposure and pathogenesis of uveal melanoma. Surv Ophthalmol 2004;49:419-28. (Pubitemid 38844800)
36. Li W, Judge H, Gragoudas ES, Seddon JM, Egan KM. Patterns of tumor initiation in choroidal melanoma. Cancer Res 2000; 60:3757-60. (Pubitemid 32204565)