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Jefferson scientists identify gene mutation potentially involved in breast cancer initiation

Researchers at Jefferson Medical College and the Kimmel Cancer Center at Thomas Jefferson University in Philadelphia and at the Albert Einstein College of Medicine in New York have found evidence suggesting that a mutation in a gene that normally helps block the formation of breast tumors could play a role in the initiation of a major form of breast cancer.

The team, led by cell biologist Michael P. Lisanti, M.D., Ph.D., professor of cancer biology at Jefferson Medical College and Richard Pestell, M.D., Ph.D., director of Jefferson's Kimmel Cancer Center, found that a known mutation in the Caveolin-1 gene is present in approximately 19 percent of all breast cancers that are fed by estrogen ?so called "estrogen receptor-positive" cells. The group also discovered six new Caveolin-1 mutations associated with estrogen-driven breast cancers. As many as nearly 35 percent of such breast cancers may carry Caveolin-1 mutations, Dr. Lisanti says. Caveolin proteins, which play important roles in cell communication, are also involved in a number of diseases and conditions, such as cancer, atherosclerosis, diabetes, Alzheimer's disease and muscular dystrophy.

The researchers, reporting in June 2006 in the American Journal of Pathology, say their results open up the possibility that Caveolin-1 mutations may be involved in the development of estrogen-positive human breast cancer, which accounts for some 70 percent of all breast cancers. "This is the first demonstration that a specific Caveolin-1 mutation is exclusively connected to being estrogen-receptor positive," says Dr. Lisanti, noting that in tests of breast tumor samples, none of those that were estrogen-receptor negative showed caveolin mutations.

"One-third of estrogen receptor-positive patients actually had caveolin mutations, making it one of the most common mutations in that population," he says. "Usually about 70 percent of all human breast cancers are estrogen receptor-positive and 30 perce
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Source:Thomas Jefferson University


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