• Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=16827748; PubMed=17311103; PubMed=23348503; PubMed=23851445).
  
• Mutation; HGNC; 11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

PubMed=16827748; DOI=10.1111/j.1600-0749.2006.00322.x
Hoek K.S., Schlegel N.C., Brafford P., Sucker A., Ugurel S., Kumar R., Weber B.L., Nathanson K.L., Phillips D.J., Herlyn M., Schadendorf D., Dummer R.
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature.
Pigment Cell Res. 19:290-302(2006)

PubMed=17311103; DOI=10.1371/journal.pone.0000236
Ugurel S., Thirumaran R.K., Bloethner S., Gast A., Sucker A., Mueller-Berghaus J., Rittgen W., Hemminki K., Becker J.C., Kumar R., Schadendorf D.
B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PLoS ONE 2:E236-E236(2007)

PubMed=19340423; DOI=10.1007/s00262-009-0701-z
Mendez R., Aptsiauri N., Del Campo A., Maleno I., Cabrera T., Ruiz-Cabello Osuna F., Garrido F., Garcia-Lora A.
HLA and melanoma: multiple alterations in HLA class I and II expression in human melanoma cell lines from ESTDAB cell bank.
Cancer Immunol. Immunother. 58:1507-1515(2009)

PubMed=23348503; DOI=10.1126/science.1230062
Horn S., Figl A., Rachakonda P.S., Fischer C., Sucker A., Gast A., Kadel S., Moll I., Nagore E., Hemminki K., Schadendorf D., Kumar R.
TERT promoter mutations in familial and sporadic melanoma.
Science 339:959-961(2013)

PubMed=23851445; DOI=10.1158/1541-7786.MCR-13-0006
Dahl C., Christensen C., Jonsson G., Lorentzen A., Skjodt M.L., Borg A., Pawelec G., Guldberg P.
Mutual exclusivity analysis of genetic and epigenetic drivers in melanoma identifies a link between p14 ARF and RARbeta signaling.
Mol. Cancer Res. 11:1166-1178(2013)