Melanoma genome study implicates sun and new genetic culprits

Share this article:

The rates of genetic mutations increased along with chronic sun exposure in persons with melanoma, and a new gene has emerged as a potential contributor to disease risk as well, report investigators who sequenced the whole genomes of 25 metastatic melanoma tumors.

“By looking across the entire genome you can more accurately determine the background mutation rate and the different classes of mutations, and more confidently describe the pattern of ultraviolet-induced mutagenesis in melanoma,” explained Michael F. Berger, co-first author of the paper, in a statement announcing his team's findings.

Berger, of the Eli and Edythe L. Broad Institute of Harvard and the Massachusetts Institute of Technology in Cambridge, Massachusetts, and fellow researchers have provided what they call the first high-resolution view of the genomic landscape of human melanoma tumors. Their work, described in a letter published by the journal Nature, has yielded a great deal of data regarding the genetic alterations involved in melanoma.

In addition to discovering that the rates of genetic mutations rose along with chronic sun exposure in patients, thus confirming the role of sun exposure in the development of melanoma, the scientists detected, as expected, the known BRAF and NRAS mutations in 24 of the 25 tumors analyzed. However, they also noted that PREX2 gene was altered in 44% of patients, and in 14% of 107 tumors in a larger validation cohort. PREX2 alterations, already implicated in breast cancer for blocking a tumor-suppressor pathway, were also found to be scattered across the length of the gene in a pattern typically seen when tumor suppressor genes are turned off.

PREX2 may prove to be a therapeutic target in melanoma, and Berger and colleagues also expect to find new melanoma-related genes as they continue to study the whole-genome sequencing data.

Share this article:
You must be a registered member of ONA to post a comment.

Sign Up for Free e-newsletters


What is this?

Regimen and Drug Listings

GET FULL LISTINGS OF TREATMENT Regimens and Drug INFORMATION

Bone Cancer Regimens Drugs
Brain Cancer Regimens Drugs
Breast Cancer Regimens Drugs
Endocrine Cancer Regimens Drugs
Gastrointestinal Cancer Regimens Drugs
Genitourinary Cancer Regimens Drugs
Gynecologic Cancer Regimens Drugs
Head and Neck Cancer Regimens Drugs
Hematologic Cancer Regimens Drugs
Lung Cancer Regimens Drugs
Other Cancers Regimens
Rare Cancers Regimens
Skin Cancer Regimens Drugs

More in Web Exclusives

Fewer cardiac scans in low-risk childhood cancer survivors can safely reduce costs ...

A less frequent screening schedule would both reduce health care charges and still protect low-risk childhood cancer survivors from heart ailments caused by drug therapy, according to recently published findings.

Everolimus does not improve overall survival of advanced liver cancer

Despite strong preclinical data, the drug everolimus failed to improve overall survival in patients with advanced liver cancer, compared to placebo, according to a study.

Presence of uterine cancers examined among women at the time of hysterectomy ...

Among women undergoing a minimally invasive hysterectomy using electric power morcellation, uterine cancers were present in 27 per 10,000 women at the time of the procedure, according to a new study.