Justine Avery Sands, who has the BRCA1 gene mutation, got together with her close friends for a “Ta Ta to the Tatas” party in Seattle the night before she had a preventive double mastectomy.

Much like Jolie, Justine Avery Sands underwent a preventive double mastectomy after learning she had the BRCA1 gene mutation. Sands lost her mother to breast cancer at age 43, followed shortly thereafter by her mother’s sister, who had been treated for breast cancer but died of ovarian cancer. Then a first cousin was diagnosed with the disease.

“My family was like, ‘What’s going on here?’” said the 33-year-old Seattle woman. “My cousin’s doctor recommended genetic testing and so my entire family got tested and then we went through genetic counseling.”

Sands’ decision to get a prophylactic mastectomy in March of 2012 was not easy, she said, but Jolie’s revelation a year later helped more people understand her reasons for doing it.

“Some people thought what I did was a bit radical and a lot of people didn’t know what it was about,” she said. “They’d never heard of the BRCA genes. [Jolie] coming out has done great things for awareness and for people who are going to be faced with this decision years from now. Now they have something to reference. They’ve seen her go through it and come out beautiful and strong and healthy.”

Raised awareness

Most breast cancers are not hereditary. The National Cancer Institute estimates no more than 10 percent of all breast cancers are due to inherited gene mutations such as BRCA1 or 2 (there are others) According to NCI, about 12 percent of all U.S. women will develop breast cancer and about 1.4 percent will develop ovarian cancer sometime during their lives.

For women (and men) with a BRCA gene mutation, however, the risks are much higher. These risks vary depending on family history and other factors, but around 55 to 65 percent of BRCA1 women and around 45 percent of BRCA2 women will be diagnosed with breast cancer by age 70. And nearly 40 percent of BRCA1 women and 11 to 17 percent of BRCA2 women will develop ovarian cancer.

Prophylactic surgery is one way reduce those risks.

According to Dr. Anne McTiernan, director of the Prevention Center at Fred Hutch, women who have had both breasts surgically removed reduce their risk of breast cancer by over 90 percent and women who have had both ovaries removed have about half the risk of developing breast cancer as women with intact ovaries. McTiernan stressed, though, that these options are most appropriate for women at very high risk.

Jolie was very high risk and her decision to go public helped normalize both prophylactic surgery and the concept of genetic testing and counseling, said Mercy Laurino, a genetic counselor in the Cancer Prevention Clinic at Seattle Cancer Care Alliance.

“It was very powerful in the public health setting,” she said. “It allowed genetic testing to be an OK conversation. Patients would come to us and say my mom died of breast or ovarian cancer. And then they’d say, ‘You know, like Angelina Jolie.’ It created a starting point to discuss genetic testing and discuss other cancer genes, as well. They may bring up BRCA1 and 2 but they may not know all the other cancer genes out there. But since they get the concept, it made it easier to explain genetics education with them and the concept of inheritance.”

Laurino said this increased awareness hasn’t just been in the U.S. either.

“There’s been a ripple effect globally,” she said. “I’ve traveled to the Philippines and China and Vietnam and it’s all over. I saw vendors promoting cancer genetic testing at an oncology meeting in China and they had big pictures of Angelina Jolie in their booths. Before, I would introduce the concept of genetic testing and counseling and the importance of family history but now, they’re generating it. People get it.”

Misconceptions about genetic testing

Laurino said that referrals at SCCA’s Genetic Counseling Service doubled in the weeks following the news, but have since returned to normal. She also acknowledged that, as predicted, some of the women pushing for genetic testing didn’t necessarily need it.

“Patients sometimes wanted the test even though there was no medical indication that they should have it,” she said. “There was no family history of cancer. They just wanted to know. Those are some of the negative implications of Jolie’s message.”

Joy Larsen Haidle, president of the National Society of Genetic Counselors, said that pattern held true nationally, as well.

“Most genetic counselors reported a marked increase in the number of phone calls and inquiries into genetic testing following the article,” she said, adding that counselors received calls from both high-risk women and healthy women without a family history who were concerned about breast cancer risk.

Larsen Haidle also acknowledged that along with increased public awareness came increased misunderstandings. Some people, for instance, assumed a test for a BRCA gene mutation provided them with their precise risk for developing breast cancer over a lifetime.

According to the NCI, a positive test result indicates that a person has inherited BRCA1 or 2 and thus has an increased risk of developing certain cancers, but it can’t tell whether that individual will develop that cancer or when (not all BRCA1 and 2 women go on to develop breast or ovarian cancer).

“At $4,000 per test, this is not a cost effective option for the general public as the result provides quite limited information,” said Larsen Haidle.

Importance of genetic counseling

Much more valuable, she said, is a conversation with a genetic counselor who can help explain a person’s chances of developing breast cancer based on their personal and family characteristics and then advise them on the usefulness of genetic testing.

Trained in both science and psychosocial issues, genetic counselors educate patients about their genetic risks and the necessity for testing. If patients go on to pursue testing and are deemed positive for BRCA1 or 2 or another gene mutation that raises their risk for breast cancer, they then offer counsel on various ways to reduce that inherited risk. Some of those options include extra screenings, estrogen-blocking drugs (for women over 60) and prophylactic surgeries.

“If someone knows they are at increased risk of developing cancer, that’s where we come in,” said Laurino. “And not everybody is like Angelina Jolie. Some want to do watchful waiting and screening. We have those discussions with patients.”

For Gralow, the most important thing is that these discussions are actually happening.

“Some people are undoubtedly overestimating their risk, but the dialogue continues and I know women are asking more questions of their health care providers,” she said. “Angelia started the dialogue by talking about her family history, genetic testing, and showing that removing her breasts didn’t necessarily diminish her womanhood or her sexuality. It’s up to the health care community to continue that dialogue and educate our patients and the community about how this applies to them.”

Sands agreed.

“Angelina Jolie is a celebrity and people like to bash celebrities but I think the awareness she brought was really positive for women in general,” she said. “My mom had the gene before anyone knew what BRCA was. I just feel lucky that I was able to really make the decisions I made and choose to live.”

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Solid tumors, such as those of the breast and ovaries, are the focus of Solid Tumor Translational Research, a network comprised of Fred Hutchinson Cancer Research Center, UW Medicine and Seattle Cancer Care Alliance. STTR is bridging laboratory sciences and patient care to provide the most precise treatment options for patients with solid tumor cancers.

Diane Mapes is a staff writer at Fred Hutchinson Cancer Research Center. She has also written extensively about health issues for nbcnews.com, TODAY.com, CNN.com, MSN.com, Columns and several other publications. She also writes the breast cancer blog, doublewhammied.com. Reach her at dmapes@fredhutch.org.