Scientists Pinpoint Another Commonly Mutated Gene in Melanoma

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melanoma risksGenetic mutations are common in the development of melanoma. That being said, the exact genetic culprit is not clear in 30% of melanomas.

Now, in a new study published in the journal Nature Genetics researchers have found a mutation subgroup called NF1 that is present in many melanomas. NF1 is thought to be a “major player” in skin cancer development.

The research team contained experts that specialize in certain disciplinarians such as cancer, genetics, pharmacology, and computational biology. Yale researchers analyzed mutations in 213 melanoma patient samples using whole exome sequencing. Also, experiments were conducted to uncover the response of tumor cells with particular mutations to anti-cancer drugs.

In the study article, the authors noted that NF1 is considered the “third most frequently mutated gene in melanoma, after BFAF and NRAS.”

Although NF1 is the third most frequently mutated gene, it is not known to cause cancer alone. NF1 is one of several genetic changes needed for a tumor to develop.

Lead study author Michael Krauthammer noted that, “The key finding is that roughly 45% of melanomas that do not harbor the known BRAF or NRAS mutations display loss of NF1 function, which leads to activation of the same cancer-causing pathway.”

Also, researchers further discovered that the NF1 mutation was found in older patient samples that had significant mutations in their tumors. The genetic mutations affected the same collective signal pathway called RASopathy genes.

Melanoma is considered the least common skin cancer; however, it leads to the most skin cancer deaths. According to the American Cancer Society, there will be an estimated 73,870 new melanoma cases this year alone, with 9,940 expected deaths from the disease.

Sources for Today’s Article:
Krauthammer, M., et al., “Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas,” Nature Genetics, published online July 27, 2015, doi: 10.1038/ng.3361.
Kashef, Z., “Yale study identifies ‘major player’ in skin cancer genes,” YaleNews, July 27, 2015;
“Scientists identify another frequently mutated gene in melanoma,” Medical News Today web site, July 28, 2015;
“What are the key statistics about melanoma skin cancer?” American Cancer Society;, last medically reviewed March 19, 2015.