Skin Cancer

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Skin Cancer is Linked with new genetic culprit -NIH Study

Good news. Bad news. Can we have both good news and bad news in a disease that kills thousands every year? You decide.

Bad News. The National Institutes of Health researchers have discovered another gang of genetic mutations involved in the deadliest form of skin cancer, melanoma.

Good News. Some of the mutations, which were found in nearly one-fifth of melanoma cases, also camp out in a gene already targeted by a drug approved for certain types of breast cancer.

Melanoma is becoming a big deal in the US and many other nations. Sun exposure and the ultraviolet radiation can damage DNA setting the skin cells up for cancer-causing genetic changes. In this study, one of the newly implicated genes stood out from the rest. Researchers detected mutations in the ERBB4 gene (also known as HER4) in 19 percent of patients' tumors, making it by far the most frequently mutated PTK gene in melanoma. In addition, researchers found that many ERBB4 mutations were located in functionally important areas similar to those seen in other PTK oncogenes involved in lung cancer, brain cancer and gastric cancer.

The ERBB4 mutations feed melanoma cells but do so more slowly in the presence of drugs known to inhibit the ERBB4 crook!

"We have found what appears to be an Achilles' heel of a sizable share of melanomas," said Dr. Samuels, who is an investigator in the Cancer Genetics Branch of the NHGRI's Division of Intramural Research. "Though additional work is needed to gain a more complete understanding of these genetic mutations and their roles in cancer biology, our findings open the door to pursuing specific therapies that may prove useful for the treatment of melanoma with ERBB4 mutations."

Researchers also discovered two additional genes with a high rate of mutations in melanoma. Each of these genes was mutated in about 10 percent of the tumor samples studied.

"NHGRI Scientific Director Eric D. Green, M.D., Ph.D., pointed out how such research is helping to lay the groundwork for the era of personalized medicine. "We envision a day when each cancer patient will have therapies tailored to the specific genetic profile of his or her tumor.

Ultimately, this should lead to more effective and less toxic approaches to cancer care," said Dr. Green, who directs the NIH Intramural Sequencing Center, which generated the DNA sequence data for the melanoma study."

(In addition to NIH scientists, the team included a researcher from the Johns Hopkins Kimmel Cancer Center in Baltimore.)