Genetic Testing and Counseling for Breast Cancer Can Help Guide Tough Decisions

After a routine mammogram in 2014 revealed a tumor in her right breast, Wendy Mayer was diagnosed with invasive lobular carcinoma. Fortunately, it had not spread. But her mother, her grandmother, and a cousin had all had breast cancer, so on the advice of her doctors, Mayer underwent genetic testing.

“I think waiting for those results may have been the most stressful part of this entire thing,” she said. To her great relief, it showed she did not have a harmful mutation on either the BRCA1 or BRCA2 genes. Mutations in these genes are linked to an increased risk for breast and ovarian cancers.  

That knowledge made Mayer, now 67, comfortable with her treatment decision. She had a lumpectomy, instead of what she said she would have probably chosen if she did have a mutation: bilateral mastectomy, the removal of both breasts.

Getting Answers

Women newly diagnosed with breast cancer face so many unknowns: What does the diagnosis mean for my future? What kind of treatment is best? Did I inherit a high-risk gene? What effect will my cancer, if it is genetic, have on my children or grandchildren?

Genetic testing can answer some of those questions. But what precedes and follows that test is vital, experts say. Many women have been helped by genetic counseling, a detailed discussion by a trained professional of a woman’s specific circumstances.

“Genetic testing is very complicated; it’s not a simple blood test,” said Suzanne Mahon, a registered nurse and genetic counselor at Deaconess Cancer Center in St. Louis. “The interpretation … hinges not only on the test results, but also on the personal and family history.”

Unfortunately, not everyone has equal access to such counseling. And research has shown that many women fail to get it because their doctor didn’t suggest it, as noted in the first story of our collaborative reporting series with the American Cancer Society. Instead, most newly diagnosed women first see a surgeon.

Kathy Bressler is thankful that she had the benefit of counseling after her breast cancer diagnosis.

“That was such a positive experience,” said the 56-year-old Omaha hospital administrator. “I felt really comfortable that we had done the latest testing and that it showed everything that there was to show at the time.”

Genetic tests are far different now than they used to be. Whereas previous tests looked for mutations on only the BRCA genes, today’s genetic tests can identify variations associated with breast cancer on 20 or more genes. The tests are also far cheaper now.

A Family History

Like Mayer, Bressler also had a mother with breast cancer. But Bressler was relieved to learn through a genetic test about 15 years ago that she did not have any harmful BRCA mutations. Nevertheless, a sharp pain in her right breast late last year led her doctor to recommend an ultrasound. It revealed a 1.7 cm lump.

cancer survivor, Kathy Bressler being kissed on the head by her daughter

A new genetic test showed no harmful mutations on any of the genes, but the breast biopsy revealed a darker result: she was diagnosed with triple-negative breast cancer, in which the three most common proteins involved in tumor growth are missing, thus ruling out several treatment options. “The kind you don’t want to have,” she said.

Though her medical team encouraged her to choose a lumpectomy, also known as breast-conserving surgery, Bressler didn’t hesitate: she wanted a bilateral mastectomy. “I was 27 when my mom died, and I just knew I wasn't going to mess around,” she said. “I wasn't going to have mammograms every six months and worry and stress.”

A subsequent test made her even more convinced that her choice was a good one: an examination of the breast tissue after mastectomy revealed three additional tumors.

Bressler said she always encourages other women to get genetic counseling and testing if they have any family history of breast cancer. “I think it really helps women in their decision-making. Without that information before surgery, you're not making a completely informed decision.”

She also emphasizes early diagnosis through regular mammograms and other screening as appropriate. She urges women to be aware of their own breasts and report any changes to their doctor. And she encourages everyone to help fund research.

“That's where we learn about more of the genes that are indeed connected to breast cancer, and that's really important,” she said. “We're not done learning about what causes breast cancer.”

Choosing Your Own Path

Christine Thies, 48, of Austin, Texas, also chose a double mastectomy — even though genetic testing revealed no harmful mutations. Her mother had died of breast cancer, and Thies was diagnosed with it after a breast reduction surgery, when her tissue was tested.

“I’m not good with the unknown,” she said. “I tend to be pretty analytical, and for me, it was a numbers game.”

But she would never describe her decision as something that’s best for others.

“Everyone has their own journey, and everyone comes to this decision differently,” she said. “There is no right answer. You just have to make an answer that is best for you.”

About This Story

This article is part of collaborative reporting series between the American Cancer Society and the public media news site Next Avenue. The series is exploring the state of genetic testing in breast cancer patients.

More in this series:

Women Face Gaps in Use of Genetic Counseling to Make Breast Cancer Treatment Decisions

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The American Cancer Society medical and editorial content team
Our team is made up of doctors and master’s-prepared nurses with deep knowledge of cancer care as well as journalists, editors, and translators with extensive experience in medical writing.


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