• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=9354451; PubMed=9598804).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=9598804).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=15009714; PubMed=15048078).
  

PubMed=1697409
Chenevix-Trench G., Martin N.G., Ellem K.A.O.
Gene expression in melanoma cell lines and cultured melanocytes: correlation between levels of c-src-1, c-myc and p53.
Oncogene 5:1187-1193(1990)

PubMed=9354451
Castellano M., Pollock P.M., Walters M.K., Sparrow L.E., Down L.M., Gabrielli B.G., Parsons P.G., Hayward N.K.
CDKN2A/p16 is inactivated in most melanoma cell lines.
Cancer Res. 57:4868-4875(1997)

PubMed=9598804; DOI=10.1002/(SICI)1098-2264(199806)22:2<157::AID-GCC11>3.0.CO;2-N
Walker G.J., Flores J.F., Glendening J.M., Lin A.H.-T., Markl I.D.C., Fountain J.W.
Virtually 100% of melanoma cell lines harbor alterations at the DNA level within CDKN2A, CDKN2B, or one of their downstream targets.
Genes Chromosomes Cancer 22:157-163(1998)

PubMed=9692547; DOI=10.1038/sj.onc.1201881
Tsao H., Zhang X., Benoit E., Haluska F.G.
Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines.
Oncogene 16:3397-3402(1998)

PubMed=10070891; DOI=10.1038/sj.bjc.6690147; PMCID=PMC2362648
Zerp S.F., van Elsas A., Peltenburg L.T.C., Schrier P.I.
p53 mutations in human cutaneous melanoma correlate with sun exposure but are not always involved in melanomagenesis.
Br. J. Cancer 79:921-926(1999)

PubMed=10766161
Tsao H., Zhang X., Fowlkes K., Haluska F.G.
Relative reciprocity of NRAS and PTEN/MMAC1 alterations in cutaneous melanoma cell lines.
Cancer Res. 60:1800-1804(2000)

PubMed=15009714; DOI=10.1046/j.0022-202X.2004.22243.x; PMCID=PMC2586668
Tsao H., Goel V., Wu H., Yang G., Haluska F.G.
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma.
J. Invest. Dermatol. 122:337-341(2004)

PubMed=15048078; DOI=10.1038/sj.onc.1207563
Pavey S., Johansson P., Packer L., Taylor J., Stark M.S., Pollock P.M., Walker G.J., Boyle G.M., Harper U., Cozzi S.-J., Hansen K., Yudt L., Schmidt C., Hersey P., Ellem K.A.O., O'Rourke M.G.E., Parsons P.G., Meltzer P.S., Ringner M., Hayward N.K.
Microarray expression profiling in melanoma reveals a BRAF mutation signature.
Oncogene 23:4060-4067(2004)

PubMed=17516929; DOI=10.1111/j.1600-0749.2007.00375.x
Johansson P., Pavey S., Hayward N.K.
Confirmation of a BRAF mutation-associated gene expression signature in melanoma.
Pigment Cell Res. 20:216-221(2007)