How Genetic Testing Saved One Woman's Life


Two-time cancer survivor Anne Weber feels fortunate to have learned of her BRCA2 gene mutation, as it led to an early diagnosis of aggressive breast cancer.

Anne Weber had no family history of breast or ovarian cancer, nor had she ever heard of a BRCA gene mutation. But, now 39 years old, the two-time cancer survivor who is BRCA2-positive feels fortunate to have empowered herself through education and receiving genetic testing despite her doctor’s opinion.

At 28, Weber learned she had stage 1 ovarian cancer following the discovery of a cyst on one of her ovaries during an ultrasound after she miscarried a pregnancy. She then had surgery to remove the affected ovary and fallopian tube.

“I was really confused because everything I read about ovarian cancer said it was supposed to be a post-menopausal disease,” Weber, who lives in Orlando, said in an interview with CURE®. “Everything I read suggested that a 28-year-old getting ovarian cancer was not normal and no one could explain why it happened or what precautions I could take to prevent it from happening again.”

Not satisfied by that, Weber sought information on her own and found online forums, some that mentioned the BRCA gene. The same forum led her to guidelines from the National Comprehensive Cancer Network (NCCN) on ovarian cancer. She brought her findings to her doctor who tried to talk her out of genetic testing for a BRCA gene mutation since her family history didn’t seem to show great signs of cancer.

Weber sought the expertise of a genetic counselor who mapped out a family tree. In doing so, she discovered that cancer was a part of her family, with several cases of melanoma and prostate cancer appearing on her father’s side. Results of Weber’s testing revealed a BRCA2 mutation.

Women who have a BRCA1 or BRCA2 gene mutation are at an increased risk of breast, ovarian, fallopian tube and peritoneal cancer, while men with the mutation are at increased risk of breast and prostate cancer. Both men and women have a greater risk of developing pancreatic cancer. Since the gene mutation is hereditary, children of those who are BRCA-positive have a 50% chance of inheriting the mutation, as well as full siblings.

“It’s amazing how quickly peoples’ tunes change in terms of all the surveillance that, frankly, I was already late for,” Weber said. “At that point, I was 30 and it was quickly brought to my attention that I should have had first mammogram or MRI at age 25. I was sent to a breast specialist and that first mammogram led to an MRI, then a biopsy.”

That biopsy revealed a stage 1 triple-negative breast cancer diagnosis, which was treated with four rounds of chemotherapy. Weber also chose to have a double mastectomy with reconstruction. About five months later, she had her other ovary removed.

“I knew I got very lucky twice, in terms of having very treatable cancers, and I wasn’t going to risk that a third time I wouldn’t be so lucky,” Weber said.

Although Weber and her husband wanted to have biological children, they were open to adoption. “We felt that my being alive to raise children was more important than us having biological children,” Weber said. The dream of becoming parents came true after they adopted a little girl at two months old — she’s now two and a half.

Weber uses her story to help others by serving as a peer navigator and research advocate for Facing Our Risk of Cancer Empowered, also known as FORCE, which is the only national nonprofit organization devoted to hereditary breast and ovarian cancer. She also helps the group with certain projects. “I felt like I wish there had been someone who could have helped guide me through the decisions without having to go through all of the misinformation that is out there,” Weber said.

New Guidelines

The NCCN, which is an alliance of 28 cancer centers throughout the United States, works to help guide patients and health care professionals on cancer treatment, as well as genetic testing in order to avoid confusion or misguidance.

This week, it updated its guidelines for genetic testing by including new information about screening for pancreatic cancer; genes (in addition to BRCA1 and BRCA2) associated with breast, ovarian and pancreatic cancer; new recommendations for testing people with Ashkenazi Jewish ancestry, who have a higher prevalence of harmful BRCA1 and BRCA2 mutations than people in the general U.S. population; and that testing may be clinically indicated if it will aid in therapy decision-making.

All patients with pancreatic cancer should now receive genetic testing, according to the newest guidelines. “There’s been an explosion of recent data showing that roughly 4% to 10% of individuals with pancreatic cancer harbor inherited genetic mutations, including BRCA1, BRCA2, ATM, the Lynch syndrome genes and others,” Dr. Matthew B. Yurgelun, of Dana-Farber/Brigham and Women’s Cancer Center and member of the NCCN Guidelines Panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, said in a press release. Results of this testing may help determine which treatment is most effective.

In addition to new guidance, experts cautioned about risks involved with direct-to-consumer genetic testing. “More and more patients are presenting to clinic having already had themselves tested through direct-to-consumer labs. Providers need to be aware that the tests offered by many of these labs are not equivalent to traditional genetic testing, and the results may need to be confirmed in another laboratory before being used for clinical care,” said Robert Pilarski, a licensed genetic counselor and professor at The Ohio State University Comprehensive Cancer Center and vice-chair of the NCCN Guidelines Panel.

In Weber’s family, all relatives on her father’s side received genetic testing. Everyone except two people — one brother and her aunt — have a BRCA gene mutation. “I don’t think genetic testing is right for everyone, but I do think genetic screening makes sense for a whole lot more people than currently have access to it,” Weber said.

“I have few female relatives but I’m trying to educate the males in my family that they have every right to have the same access to information as I do to ensure that they are taking care of themselves.”

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