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Breast Cancer Health Center

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New Genetic Advances in Breast Cancer Diagnosis

Study Could Pave the Way for Personalized Diagnosis and Treatment of Breast Cancer

Genes Hold Key to Breast Cancer Diagnosis continued...

There are also other much rarer mutations seen in the new study. “If you look at these mutations, you see there are 'drugable' targets and there will be opportunities with currently approved drugs,” he says.

Now Ellis and colleagues plan to validate the findings and move toward trials. “The current paradigm of looking for a one-size-fits-all drug will never work,” he says. Treatment must start with a very precise genetic diagnosis. “Every patient will be diagnosed this way in 10 years, possibly sooner,” he says.

The Future of Breast Cancer Diagnosis

Stephanie Bernik, MD, the chief of surgical oncology at Lenox Hill Hospital in New York City, says that she hopes this type of personalized diagnosis and treatment is not too far off.

“We know it is not just one change that causes cancer, but changes on many different levels,” she says.

“What works for most doesn’t work for all and the new study helps move us closer toward the goal of personalizing breast cancer treatment,” she says.

There is no doubt that this is the wave of the future when it comes to breast cancer diagnosis and treatment, says Marisa Weiss, MD, president and founder of and the director of Breast Radiation Oncology. Weiss is also the director of Breast Health Outreach at Lankenau Hospital in Wynnewood, Pa.

“There is no one-size-fits-all treatment plan,” she says. “We need a treatment plan based specifically on the unique nature of the disease.”

Better pairing of treatments to tumors will also reduce the risk of side effects because treatments can spare healthy cells and instead focus only on cancer-causing cells, Weiss says.

“This study is exciting because it gives us a deeper FBI-style report on breast cancer and specifically hormone receptive positive breast cancer,” she says.

“Breast cancer is made up of many different cells and many genetic variants,” she says. “If all cells were identical, we would have cured this disease already.”

The new report “gets us one meaningful, but small step closer to decoding breast cancer,” she says. “We are finding out which genes are the culprits and the next step is to find the therapies that knock them out or get them to retain to normal function.”

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