• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=15945100).
  
• Mutation; HGNC; HGNC:7989; NRAS; Simple; p.Gly13Arg (c.37G>C); ClinVar=VCV000013899; Zygosity=Unspecified (PubMed=23455323).
  

PubMed=10338330; DOI=10.1097/00008390-199902000-00003
Helen Rizos, Artur P. Darmanian, James O. Indsto, Jenniffer A. Shannon, Richard F. Kefford, Graham J. Mann;
Multiple abnormalities of the p16INK4a-pRb regulatory pathway in cultured melanoma cells.
Melanoma Res. 9:10-19(1999)

PubMed=11595726
Therese M. Becker, Helen Rizos, Richard F. Kefford, Graham J. Mann;
Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding.
Clin. Cancer Res. 7:3282-3288(2001)

PubMed=15945100; DOI=10.1002/ijc.21265
Therese M. Becker, Ana L. Ayub, Richard F. Kefford, Graham J. Mann, Helen Rizos;
The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired.
Int. J. Cancer 117:569-573(2005)

PubMed=23455323; DOI=10.1038/onc.2013.45
Therese M. Becker, Suzanah C. Boyd, Branka Mijatov, Kavitha Gowrishankar, Stephanie Snoyman, Gulietta M. Pupo, Richard Anthony Scolyer, Graham J. Mann, Richard F. Kefford, Xu-Dong Zhang, Helen Rizos;
Mutant B-RAF-Mcl-1 survival signaling depends on the STAT3 transcription factor.
Oncogene 33:1158-1166(2014)