• Gene deletion; HGNC; 6190; JAK1; Zygosity=Heterozygous (PubMed=28561041).
  
• Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=16827748; PubMed=17311103; PubMed=23348503).
  
• 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; PMCID=PMC1794595
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=20544847; DOI=10.1002/gcc.20785
Gast A., Scherer D., Chen B.-W., Bloethner S., Melchert S., Sucker A., Hemminki K., Schadendorf D., Kumar R.
Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study.
Genes Chromosomes Cancer 49:733-745(2010)

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=28561041; DOI=10.1038/ncomms15440; PMCID=PMC5460020
Sucker A., Zhao F., Pieper N., Heeke C., Maltaner R., Stadtler N., Real B., Bielefeld N., Howe S., Weide B., Gutzmer R., Utikal J.S., Loquai C., Gogas H., Klein-Hitpass L., Zeschnigk M., Westendorf A.M., Trilling M., Horn S., Schilling B., Schadendorf D., Griewank K.G., Paschen A.
Acquired IFNgamma resistance impairs anti-tumor immunity and gives rise to T-cell-resistant melanoma lesions.
Nat. Commun. 8:15440.1-15440.15(2017)