Woman battling breast cancer learns of family risk through genetic testing

Genetic counselor helps pass risk info to families

THORNTOWN, Ind. - Roberta Schluttenhofer is like any mother of grown children, proud but worried, but the news she received about a year ago changed the subject matter of her concern.

Roberta carries the BRCA-2 gene mutation, meaning that she’s dramatically more likely to develop breast and ovarian cancers.

That discovery was uncovered after Roberta was diagnosed with breast cancer for a second time.

“All the thoughts and all the things come flooding back from when you had it the first time,” she said. “You think, ‘I don't know if I can go through chemotherapy again.’”

Roberta was treated with chemotherapy and a second mastectomy.

“I ended up having my right breast taken off during surgery in January,” she said.

However, the battle was far from over. Roberta was soon connected with Dawn McIlvried, a genetic counselor at St. Vincent Hospital, who discovered the gene mutation.

Looking back through family history, McIlvried discovered Roberta inherited the mutation from her father’s side of the family. Several cousins had breast cancer and the gene mutation, too.

“If you carry it, there's a one in two chance to pass it on, 50/50,” McIlvried said.

So, Roberta encouraged her daughters to get tested, too.

“I found out my two daughters carry the gene, too,” said Roberta.

That discovery was more frightening for Roberta than her own genetic discovery. That worry was probably the last thing Roberta needed while fighting her way toward a double remission.

However, she finds confidence in the fact that her daughters are educated in family history and are taking the necessary precautions for early detection.

Uncovering The Risk

McIlvried said 10 to 12 percent of the general population is at risk for developing breast cancer. Having either the BRCA-1 or BRCA-2 gene mutation increases that risk to 50 to 85 percent.

In addition, 1 to 2 percent of general population is at risk for developing ovarian cancer. With either mutation, the risk jumps to 20 to 45 percent McIlvired said. "She had no family history of ovarian cancer, but we know that if there is a mutation in one of those two genes, it increases the risk.”

With that knowledge, McIlvried encouraged Roberta to take action to prevent ovarian cancer. As it turns out, the cancer had already grown.

“They found I had a small 1.75 tumor in my fallopian tubes,” said Roberta. 

Immediately, doctors ordered a full hysterectomy and more cancer treatments.

It was a rough road, but Roberta leaned on faith, friends and family.

Now Roberta is working her way toward health, gardening and quilting her way through the occasional fatigue.

After the past year and a half, Roberta has found herself being a champion of women. She encourages others to take steps toward early detection and to be knowledgeable about their own family history.

Men aren’t excluded, said McIlvried. In fact, when the BRCA-1 and BRCA-2 gene mutations are passed down, men, like women, are more likely to develop breast cancer. In addition, their chance for developing prostate cancer rises, too.

McIlvried admitted genetic testing isn’t for everyone. It can create excess worry when worry isn’t necessary. Just 5 to 10 percent of cancers are hereditary.

However, McIlvried recommends that anyone with ovarian cancer get tested because the disease is so rare.

More: BRCA fact sheet | BRCA details | St. Vincent Hospital

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