Variations on a Gene, and Tools to Find Them

From The New York Times:

CANCERS were once named strictly for the tissue where they originated in the breast, prostate or other part of the body. Now, in the age of genetically informed medicine, cancers may also come with a more specific lexicon: the names of mutated genes deep within tumors that cause cells to become cancerous. Most of these gene flaws — there are scores of them, and they have names like BRAF V600E — are relative newcomers to medical terminology, as are most of the anticancer drugs, still in early testing, that are aimed at them. Development of the new drugs has been spurred by the falling cost of decoding DNA and the prospects of premium prices for drugs that specifically attack the molecular drivers of cancer. Even medical oncologists can be daunted by the complexity of these genes and the therapies intended to fight them, said Dr. William Pao, a physician and scientist at Vanderbilt University who studies cancer mutations in addition to seeing patients. “There are so many genes and so many mutations,” he said. “The human brain can’t memorize all those permutations.”

To guide doctors and their patients, many tools are on the market, including one created by Dr. Pao and colleagues: the Web site My Cancer Genome. The site, which started two years ago, is maintained by 51 contributors from 20 institutions. It lists mutations in different types of cancer, as well as drug therapies that may or may not be of benefit. Most of the drugs are in clinical trials; a few have been approved by the Food and Drug Administration. The typical user of this information is an oncologist, Dr. Pao said. At the Web site, the doctor can select “melanoma” and “BRAF,” for instance, or “lung cancer” and “BRAF,” and see all types of mutations in the BRAF gene that occur in those instances. The doctor can then check for national and international drug trials aimed at these alterations. Different treatments may work in different molecular subsets of cancer, depending on the mutation. More than 700 oncology drugs are now in development, many aimed at DNA defects, Dr. Pao said, “and the number will only accelerate.” “We are moving away from the tissue of origin to the molecular basis of the cancer, using the mutation to search for a treatment,” he said.

More here.