NEW HAVEN, Conn. -- Researchers from the U.S., Australia, and Sweden have combined forces to isolate the gene for basal cell carcinoma of the skin, the most common human cancer. The findings, published in the June 14 issue of the journal Cell, could lead to a skin cream that would cure the disease, and to genetic testing for susceptibility to skin cancer.
Approximately one million cases of basal cell carcinoma occur each year, and its incidence is on the rise. The new gene, called PTC, is essential for keeping skin cells under control. "Genetic mutation of PTC is the key step in development of skin cancer,2 said Allen Bale, M.D., senior author of the Cell paper and director of the Cancer Genetics Program at the Yale Cancer Center.
The discovery paves the way for novel approaches to preventing and treating basal cell carcinoma, according to David J. Leffell, M.D., associate professor of dermatology at the Yale School of Medicine and a co-author of the report. 3Although still several years away, it1s not unreasonable to imagine an ointment that, when applied to the skin, may control the growth of the cancer,2 Leffell said. 3Because skin cancers occur externally rather than in internal organs, a dose of a medication that can replace the function of the faulty gene could be applied directly to the cancer while minimizing side effects.2
The search for the gene began with studies of a rare hereditary disorder, nevoid basal cell carcinoma syndrome (NBCCS). People with this syndrome often develop thousands of skin cancers and may also have birth defects and childhood brain tumors. In 1992, Bale mapped the NBCCS gene to human chromosome 9, and over the past 4 years he and his collaborators sorted through 40 genes from this region. In May, Bale's group reported isolation of PTC, a human gene similar to a previously reported fruit fly gene. "Nobody had a clue that this gene had anything to do with human cancer, but some of the features in fruit flies
Contact: Ilene Lefland
Yale Cancer Center