• Mutation; HGNC; 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
Keith S. Hoek, Natalie C. Schlegel, Patricia Brafford, Antje Sucker, Selma Ugurel, Rajiv Kumar, Barbara L. Weber, Katherine L. Nathanson, Donald J. Phillips, Meenhard Herlyn, Dirk Schadendorf, Reinhard Dummer;
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature.
Pigment Cell Res. 19:290-302(2006)

PubMed=20544847; DOI=10.1002/gcc.20785
Andreas Gast, Dominique Scherer, Bo-Wang Chen, Sandra Bloethner, Stephanie Melchert, Antje Sucker, Kari Hemminki, Dirk Schadendorf, Rajiv Kumar;
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
Susanne Horn, Adina Figl, P. Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki, Dirk Schadendorf, Rajiv Kumar;
TERT promoter mutations in familial and sporadic melanoma.
Science 339:959-961(2013)