Human Melanoma Metastasis Cell Lines Harboring Bcl-2-Like Protein 12 (BCL2L12) Mutations

Using whole-genome and whole-exome sequencing to identify somatic (e.g., tumor-specific) alternations in human melanoma samples, the researchers at the NIH have found a recurrent synonymous (or silent) somatic mutation in the Bcl-2-Like Protein 12 (BCL2L12). The mutant BCL2L12 bound to p53 and inhibited UV-induced apoptosis more efficiently than wild-type BCL2L12 and therefore could be a novel melanoma oncoprotein. This appears to be the first report of a mutation that does not alter the encoded protein, yet affects the protein function in the cancer genome. Consequently, these cell lines could be used to further investigate the effects of BCL2L12 in melanoma and to develop therapeutics targeting this gene and protein.

Potential Commercial Applications: Competitive Advantages:
  • Diagnostic array for the detection of BCL2L12 mutations.
  • In vitro and in vivo cell model for the BCL2L12 mutation in melanoma. This is a useful tool for investigating BCL2L12 phenotype biology, including growth, motility, invasion, and metabolite production.
  • Cell lines are derived from melanoma patients.
  • The BCL2L12 mutation is frequent in melanomas.

Development Stage:

Related Invention(s):


Yardena Samuels (NHGRI)  ➽ more inventions...

Steven Rosenberg (NCI)  ➽ more inventions...

Intellectual Property:
Research Tool – Patent protection is not being pursued for this technology.

Gartner JJ, et al. PMID 23901115

Collaboration Opportunity:

The NHGRI is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize this technology. For collaboration opportunities, please contact Claire Driscoll, Director, NHGRI Technology Transfer Office, at or 301-594-2235.

Licensing Contact:
Eggerton Campbell, Ph.D.
Phone: 301-402-1648

OTT Reference No: E-145-2012-0
Updated: May 8, 2018