BRCA gene mutations examined during Breast Cancer Awareness Mont - WFSB 3 Connecticut

BRCA gene mutations examined during Breast Cancer Awareness Month


Angelina Jolie made big headlines when she revealed she had the BRCA gene and then had a double mastectomy to prevent breast cancer, but how do you make the decision on whether to get the test yourself?

Irene O'Connor spoke with a Rocky Hill woman and discussed her quest to keep herself cancer free.

Ada Rossi said she has a strong history of cancer in her family.

"I had a grandmother, mother, a cousin that is currently being treated for ovarian and my other cousin who's being treated for breast cancer," Rossi said.

And it was that cousin who insisted she get the test, but what was the tipping point for her? What made her finally go get tested for the BRCA gene mutation, which carries an increased chance of getting breast and ovarian cancer?

She said it was her own gynecologist.

After careful thought and research, she said she got the test in May 2013, and while she was waiting the three weeks for the test to come back she said she was filled with anxiety.

She said she then found out she was indeed positive for the BRCA "two" gene mutation.

The BRCA One and Two gene mutations are very similar, but the risks and types of cancer vary with each one. Her doctor said the results showed her risk of getting cancer with this gene mutation was high. She said she had a 60 to 80 percent lifetime risk of getting breast or ovarian cancer and then after talking it over with her doctor she decided to have a drastic surgery at Saint Francis Hospital and Medical Center.

"I had a bi-lateral mastectomy," she said. "I had both ovaries and fallopian tubes removed."

Those surgeries took place just a few weeks ago.

"I feel emotionally and mentally, it's put a big relief for me," she said.

If you do test positive for the BRCA gene mutation, surgery is not the only answer. Doctors can put patients under "increased surveillance," meaning they would have a mammogram, and MRI and two breast exams per year.

"A lot of patients that I've seen with BRCA mutations or suspected BRCA mutations are surprised to know that we can help prevent and catch cancers early if we have them on our radar screen," Dr. Kimberly Caprio, of Saint Francis Hospital and Medical Center said.

But she said that even if a woman decides to have surgery, the risk of getting cancer is not gone completely.

"So there's always about a 5 to 7 percent chance that even after bi-lateral mastectomy, a woman can get breast cancer in her lifetime," Caprio said.

Rossi said she has two adult daughters, and one has already had the test.

"She's negative," she said. "That phone call brought tears to my eyes of happiness."

A little more relief for Rossi, but she said it's a tough decision for anyone to have the test. She said the best thing to do is talk to your doctor and your family.

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