Whole-exome sequencing brings to light a novel oncogene, a tumor-suppressor gene, and new melanoma pathways.
The ability to decode the human genome through sequencing has provided new insights into all diseases, cancer in particular. On the assumption that the driving influences on melanoma biology result from changes in the coding region (i.e., segments of the genome that yield proteins), investigators performed whole-exome sequencing to assess all acquired (i.e., somatic) mutations in the DNA of 14 matched normal tissue and metastatic tumor specimens. By definition, these mutations occur in tumor but not in matched normal tissue (e.g., blood) from the same patient.
To identify new oncogenes, the researchers looked for recurrence. In well-known oncogenes, such as BRAF and NRAS, repeat mutations of certain amino acids occur; these changes most effe…
Reviewing Author
DisclosuresConsultant / advisory board Lubax; WorldCare Clinical
EquityLubax
Grant / Research support NIH; Department of Defense; American Skin Association; Piramal
Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology
Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)
DisclosuresConsultant / advisory board Lubax; WorldCare Clinical
EquityLubax
Grant / Research support NIH; Department of Defense; American Skin Association; Piramal
Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology
Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)