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

Regimen and Drug Listings


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

Improved tyrosine kinase inhibitor (TKI) selectively activates in tumor tissue, minimizing side ...

A new strategy developed by an interdisciplinary team of researchers aims to reduce the side effects connected to use of tyrosine kinase inhibitors (TKIs).

Prior cancer exclusion criteria may stymie potential of lung cancer clinical trials

A history of prior cancer can exclude many individuals from participation in clinical trails related to lung cancer, even when the prior cancer is unlikely to interfere with treatment outcomes.

Better adherence to guidelines for safe handling of antineoplastic drugs is needed

Recommended safe handling practices for workers who administer antineoplastic drugs in health care settings are not always followed, according to a new study.