When Heather Mann found out she was breast cancer, it was a complete surprise. “I never thought I was at high risk for breast cancer,” the 49-year-old says. “I don’t have a family background or a history of breast cancer. My paternal grandmother had breast cancer, but apparently this is usually not a significant factor. So I was very surprised to learn that I had a malignant tumor. “
Shelia Bauer’s journey on breast cancer went a completely different path. After her twin sisters died of the disease at age 50, Bauer, who is now 73, suggested she was likely to tolerate some genetic risk factors. For three decades she got both a mammography and MRI each year to make sure there are no rejected cells in her breast tissue. And every year she looked forward to the results; based on her sisters ’history, she simply suggested that she had an increased risk of developing the disease.
In her case, she was wrong.
Mann, who lives in San Francisco, and Bauer of Cape Cod are included in Wisdom study, Women informed of the screening according to risk measures are supervised Dr. Laura Esserman, director of the Carol Frank Buck Breast Care Center at the University of California, San Francisco. And because of a comprehensive assessment of their risk factors for breast cancer, which includes genetic testing, as well as their family history and lifestyle, for example diet and exercise schemeswhich they received as part of the trial, each of them learned that they needed to make changes to the way they managed the risk of the disease. (Mark and Lynn Benioff, co-chairs and owners of TIME, were charitable supporters of Dr. Esserman’s breast cancer research. The WISDOM study receives software support from Salesforce, where Mark Benioff is chairman and CEO.)
Both women have already followed existing breast cancer screening advice, following recommendations that are slightly different, but generally assume that women over the age of 40 begin to do annual or biennial mammograms. But it turned out that the schedule was not perfect for any woman.
When the WISDOM team sent Manu a DNA testing kit by mail as part of a study in March 2018, she handed over a sample of saliva and sent it back to the lab, inquiring about her genetic risk, but relatively sure she has no mutations that expose her to an increased risk of breast cancer. The results proved otherwise.
The test showed that Mann was carrying a mutation called CHEK2, which doubles the risk of breast cancer compared to the average. “Breast cancer wasn’t in my family,” she says. “We really thought they needed to go back to the lab and double check the results because they had the wrong patient or the wrong phone number. I was shocked.”
The CHEK2 mutation also puts Mann at a higher risk of developing other cancers, so doctors are now monitoring her thyroid for any unusual growths. And instead of doing a mammogram once a year, “[the WISDOM] The researchers recommended switching between mammography and MRI every six months, “she says.” This ensures that if something happens again, it will be caught early. Learning that I positively evaluate CHEK2 has directly affected how I check for breast cancer. ».
In fact, Mana’s mammogram a month after the results of the genetic test continued to detect abnormalities, and only in November 2018 as part of a WISDOM study caused by her genetic predisposition did doctors detect her cancer. “I had a clean health bill from my mammogram. Six months later I had an MRI and they saw something. Then they did a biopsy, and it was breast cancer, early stage, ”she says. “If I hadn’t participated in WISDOM, I would never have found out that I had a CHEK2 mutation … which led to me getting an MRI. If I hadn’t done the MRI, I would never have found out. “
“For me, it’s one of the greatest success stories WISDOM“- says Esserman, who removed Mana’s cancer through surgery in January 2020.” Her tumor was very small and she was able to do a fairly small operation and remove it. And CHEK2 mutations are almost all hormone positive, so by applying endocrine therapy, she reduced her risk of breast cancer on the other hand, and did not feel the need to do a bilateral mastectomy. And she’s incredibly good. “
Mann says she is confident that the current six-month screening schedule, in which she undergoes alternating mammograms and MRIs, will catch any potential recurrence and is the best way to manage cancer risk. “I know deep down and can sleep at night and look in the mirror because I know I’m doing my best,” she says. This also applies to members of her family – she asked her sister to undergo a genetic test, and hopes that her daughter, as she gets older, will also benefit from knowing her family’s genetic history of breast cancer and make similarly active choices regarding as she is examined for illness.
Bauer also thinks about her daughters and granddaughters and hopes that what she learned by joining WISDOM will also help them. Because both of her sisters died of breast cancer and her aunt died of ovarian cancer, for 30 years doctors recommended she undergo annual mammograms, breast MRIs and pelvic ultrasounds. Following their advice, she did not enjoy the experience. “Waiting for results is very, very stressful,” she says, and they’ve been spread over the years, so “you spend a significant portion of your life on that.” She’s also claustrophobic and when she got into a tight spot of an MRI tube, it caused alarm – “but I did it because it was a protocol,” she says. She’s also not thrilled about the radiation exposure she gets annually from mammograms, even when doctors say it’s low enough to be generally safe.
Thus, if her genetic test in April did not detect any significant mutations associated with breast cancer, it became a huge relief on several levels. She could cut her mammogram every two years, and could be more confident. I thought, “My God, I can exhale.” It was so much easier for me to know that I wasn’t carrying [risk] genes, ”she says. Knowing this, I thought, “Thank God my children and two granddaughters may not be [them]. ”
However, convincing the doctor to allow her to go for a mammogram every two years is a little trickier. Bauer is concerned that her doctor could not share with the doctor, who for years advised her on the assumption that she had an increased risk of developing the disease. Esserman offered to talk to her doctor and resolve any issues – something she used to do when meeting with doctors who were not quite aware of the idea of adapting existing screening methods to the individual risk of each woman. “I call their doctors and explain what we do and why,” she says. “I’ve had a lot of such conversations, and most of the time they pass. Now we have this tool that really goes through all the data – we have all the data on prevention, all the data on the risks – and we have a model where we can explain that. ”
As part of WISDOM, Eserman will also look at genes other than the 10 major ones that are known to increase the risk of breast cancer. While these other genes and mutations alone cannot alter a woman’s risk of disease, some groups of them, when they occur together, can. And these sets of mutations are what Esserman hopes to single out by comparing women’s genetic tests to whether they develop breast cancer or not.
For both Bauer and Mann, joining WISDOM has helped them feel more confident that what they are doing to protect themselves from breast cancer is right for them, based on their specific disease risk, excluding their genetic makeup, their familial medical history, their diet and exercise habits and more. “I think it’s crazy that women have a false sense of security by walking and doing what they think they should do by doing a mammogram every year, and lo and behold, there may be cancer in their breasts,” Mann says. “I feel almost careless when I walk around without getting this information when it’s not that complicated. We have the tools, but people make decisions in a vacuum because they just don’t know. “
“I hope we can change the way we conduct testing for all women,” Bower says. “I really believe the time has come and we need to change.”