Genetic testing latest breast cancer hope


Welcome to the annual Pink Edition of the Dayton Daily News , dedicated to those whose lives have been touched by breast cancer.

Inside today’s Life section, you will find the inspirational stories of patients, survivors and those who support them on their journey. We also take a closer look at treatment options and local resources.

For four years, we have printed an annual Pink Edition to promote awareness of this disease that impacts so many lives. Thank you, readers, for joining us in the fight.

Joan Fahringer and Josie Shuler both have breast cancer.

But though have the same diagnosis, they have very different diseases that require very different treatments.

For Fahringer and Shuler and countless other women, research is the key to finding the right weapon in their battle against breast cancer. And in recent years, research has focused on the complex role genes play in cancer’s growth and spread.

This year, an estimated 226,870 women in the U.S. will be diagnosed with some type of breast cancer, and 39,510 will die of the disease, according to the American Cancer Society. Breast cancer survival rates have risen steadily over the last 20 years, thanks to earlier detection and better treatments. In 1977, about 75 percent of women were still alive five years after their breast cancer diagnosis; by 2007, five-year survival rates for women with breast cancer were at 90 percent.

“For the past 25 years, we’ve gone from a situation where breast cancer was considered one disease,” said Dr. Charles L. Shapiro, director of the breast cancer research center at Ohio State University’s Comprehensive Cancer Center/Arthur G. James Cancer Hospital and the the Wexner Medical Center in Columbus. “Now we recognize that it’s a family of diseases. That has far-reaching implications, because those subtypes of breast cancer are different diseases with different treatments, and one size does not fit all in breast cancer.”

For years, doctors have known that women with abnormal BRCA1 and BRCA2 genes are at greater risk for developing breast and ovarian cancers.

But cancer cells have their own unique genetic structure, and now researchers are studying genes in cancerous tumors to identify the mechanisms that allow cancer to develop and find ways to short-circuit those processes .

By studying cancer cells collected from thousands of women, researchers have discovered that there are at least four broad subcategories of breast cancer. Three have biological markers that doctors can test for, and targeted treatments that short-circuit the mechanism that causes cancer cells to form.

Fahringer, 79, of Centerville, was first diagnosed in 2005 with a type of breast cancer that’s fed by the hormone estrogen. Treating her disease requires using a drug such as tamoxifen that blocks estrogen’s ability to trigger the growth of cancer cells in the breast.

Fahringer’s first bout with cancer was a small tumor that had not spread. She had a lumpectomy, followed by radiation. She could have taken tamoxifen, but doctors told her it was not really necessary, so she did not.

In 2009, the cancer came back, and it had spread to the bone. She enrolled in a clinical trial, or experiment, and a combination of drugs shrunk the cancerous lesions, and kept them from spreading, but didn’t kill the cancer entirely.

Now, Fahringer is starting a new clinical trial at OSU, comparing how well an already-approved drug works on its own compared to how it works in compared to how it works when combined with a second drug.

Search for better treatment

In addition to estrogen, doctors can also test whether a woman’s breast cancer cells show the hormone progesterone or the protein HER2, which is associated with the growth of many types of cancer, play a role. Specialized treatments can be effective in treating both those types of cancer.

Learning more about individual cancer types means patients get better treatments with fewer side effects, said Dr. Carol Sawmiller, a surgeon and director of breast cancer services at Kettering Health Network. It also means surgeons can use less invasive procedures to remove cancerous tissues, she said.

Much of the knowledge about genetic risk factors has translated to giving patients more knowledge about their risks and their treatment options. Women who learn they have the BRCA mutation might opt for preventative mastectomies and reconstruction, she said.

But researchers are still trying to find effective treatments for the fourth sub-type of cancer, called triple-negative breast cancer because it does not have biomarkers showing that estrogen, progesterone or HER2 are involved in feeding the development of cancer cells.

Triple-negative breast cancer tends to be very aggressive, growing and spreading rapidly beyond breast tissues. Surgery and chemotherapy are not very effective at keeping it from coming back. Researchers are looking for the biomarkers that can identify the genes or growth factors that trigger cancer development. Once they find the trigger, they can find a way to block its action, said Dr. El Mustapha Bahassi, a researcher at the University of Cincinnati Cancer Institute.

“They don’t have estrogen or progesterone or HER2 receptors,” Bahassi said. “They don’t get tamoxifen or anything. They go straight to chemotherapy. It’s highly toxic and produces very mixed results and it has very variable outcomes, so these women don’t usually make it more than 12 months at best.”

About 15 percent of breast cancer cases in the U.S. are triple-negative, and Shuler, 54, of Fairfield Twp., is part of that 15 percent.

She’s a long-term survivor, but it has not been an easy fight. “There’s no hope right now for this,” she said. “It will always come back.”

Shuler was first diagnosed with breast cancer in 2008, and had surgery and chemotherapy, which worked for a while.

In 2010, she learned the cancer was back, and it had spread to her lungs.

She received more chemotherapy over a one-year period, finishing it in December 2011.

In August of this year, she learned the cancer was back, growing in her lungs again. And a month later, she went to the emergency room because of headaches that would not go away and learned the cancer has spread to her brain.

Radiation treatment helped kill the tumors in her brain, but the nerve damage they caused left her blind in her left eye.

She is waiting for word on whether she will be able to participate in a clinical trial at the University of Cincinnati testing an experimental drug designed to block cancer cells’ ability to repair themselves after chemotherapy. About 10 people will be enrolled in the trial through UC, and about 100 people will participate nationally.

After her first diagnosis, Shuler started volunteering with the Susan G. Komen Foundation and other advocacy organizations to raise money for breast cancer research and early detection programs.

“That’s the way I fought cancer. I’m not sitting at home and lamenting about why this happened. I have to help. Volunteering is good for me,” she said.

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