Genetics and Breast Cancer: One Family’s Reality


Kat Werner’s family tree looks like a game board. Her mother and each of her mother's 11 siblings has been assigned one of six colors to represent his or her BRCA status and whether they have been diagnosed with breast cancer.

The 12 siblings include four sisters who have had breast cancer, but Werner says she only knows of one who is BRCA2 positive. A fifth sister is BRCA2 positive but has not been diagnosed with breast cancer, and another is BRCA negative and has been diagnosed with breast cancer. The youngest of the sisters, a nurse, tested negative but decided to have a bilateral prophylactic mastectomy. Two brothers are BRCA2 positive. Two of the sisters died of breast cancer, one of whom was tested after her cancer recurred. She was BRCA positive. The other sister died before testing was available.

Despite the preponderance of breast cancer among her siblings, Werner’s mother convinced Werner and her sister that they had nothing to fear.

“One of my mother’s younger sisters died when she was 42, when I was in my early 20s, and I asked my mother if I should be concerned,” Werner says. “She said that since they were diagnosed at such a young age and that she hadn’t been diagnosed, we were safe. I believed her.”

Then in 2006 at age 31, Werner became the first and, so far, the only of 28 cousins to be diagnosed with breast cancer. Her mother was devastated. Werner was immediately tested and learned she was BRCA2 positive. “When I told my mother, she still said that didn’t mean she was positive,” Werner says. “I had to tell her it did.” Then two years ago Werner’s mother was also diagnosed.

Werner says her diagnosis was more than a wake-up call, it was an alarm for the young mother of two children under the age of 5. “It was a small tumor but aggressive,” she says. “I didn’t know where to turn and found the Young Survival Coalition. The women I talked to were wonderful.”

Werner decided she should be aggressive to do all she could to raise her children. She began reading breast cancer studies and told the first oncologist she met that she wanted dose-dense chemotherapy, not the protocol at the time. He said it was too much, and they needed to save that approach if they needed it later. “I told him I wasn’t going to do it again later.”

It took two more referrals before Werner found “her” oncologist in Roanoke, Virginia, who agreed with her decision, quoting the same study Werner had read. She says she burst into tears.

Since her diagnosis, Werner has become active with the Young Survival Coalition as well as serving on the board of the Susan G. Komen for the Cure’s affiliate near her home. She speaks to medical students and has served on the Department of Defense Peer Reviewed Breast Cancer Research Program. At the beginning of 2010 Werner and her husband agreed that she would be a full-time advocate for the year. Werner left her job and has been traveling, speaking and serving on boards.

She has also had a third child, another daughter named Elise who is now 18 months old. Elise was a surprise, she says, but not unwelcomed. Now that she has two daughters, Werner says her passion comes in finding answers before her daughters will have to face breast cancer. She says she has already begun a dialogue with her daughter Bethany, 9, who she’ll encourage to get tested for the gene when she is 18. In the meantime, she is working to educate her aunts, uncles and cousins about BRCA testing. The family is now part of a study at at least one institution—the ones who are willing to discuss their genetic reality.

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