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Genetic testing can provide answers for families with a history of breast cancer

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SANDY LAKE, Pennsylvania - You have cancer. They're three words that can forever change a person's life.

For 21 News Healthy Living Reporter Kate Keller's grandmother, Esther Schell, it's news doctors have had to break to her twice.

"Actually, I was saying goodbye to my oncologist and the week after I found out I had it again," said Esther Schell of Sandy Lake, Pennsylvania.

Five years ago, when Esther was 75, doctors discovered breast cancer in her left breast. And while the news was devastating, it wasn't entirely surprising. Within a matter of 11 years Esther lost two of her sisters, Aggie and Ellen, to breast cancer.

"Before Aggie had it, we never thought about cancer," Schell said.

Having watched her sisters' struggles, Esther opted to have her left breast removed; having no idea she'd have to do the same thing five years later.

When she was diagnosed a second time, her concerns began to grow. Did the family's history of breast cancer go beyond just coincidence? Were genetics playing a role?

"I asked my oncologist if my granddaughters should get the test and he said, 'No, you are the one that needs the test to see if you have the gene,' and so that is the way we went," Schell said.

Esther had a blood sample taken so her BRCA 1 and BRCA 2 genes could be studied. Mutated versions of those genes are the most common cause of hereditary breast cancer. And while, a majority of breast and ovarian cancers happen by chance, 5% to 10% have a hereditary cause.

"Most women have about a 10 to 11 percent lifetime risk for breast cancer and this would increase the odds to anywhere from 45 to 85 percent. So, it is a very significant increase," said Jennifer Stein, a Genetic Counselor at Akron Children's Hospital.

As with Esther's case, family history and bilateral breast cancer are things counselors consider when determining whether a person is a candidate for genetic testing. They also look at diagnoses under the age of 50 and a history of both breast and ovarian cancers.

Esther received her test results Monday.  Her blood sample showed no mutations to her BRCA 1 and BRCA 2 genes.

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