Available Technology

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.
Patent Abstract: 
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.
Benefits 
Cell lines are derived from melanoma patients. -The BCL2L12 mutation is frequent in melanomas.
applications 
Inventors: 
Yardena Samuels
Internal Laboratory Ref #: 
E-145-2012/0
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