“It’s kind of funny,” is how nurse practitioner Nhu-San Nguyen of Seattle described finding her breast cancer in 2020. “I was taking an advanced physical assessment class online, and we were doing the breast exam portion and I found a lump. I was lucky in a way; not many 26-year-olds are doing breast exams.”
Nguyen, now 33, knew she had to act fast. She’d just quit her nursing job with UW Medicine to move to Philadelphia and start a nurse practitioner degree program. Her insurance was expiring at the end of the month, and the movers were due to pack up her house any minute.
“I got my mammogram, ultrasound and biopsy within two weeks,” she said. “That was unusual, especially during the chaos of COVID. I got the diagnosis the day the movers came to my house.”
Nguyen put school on hold and stayed in Seattle to get treatment at Fred Hutch Cancer Center ― “I wanted community and support and didn’t want to navigate a whole new health system” ― moving herself, her husband and the family dog and cat in with a friend, her husband and their dog.
Like many people diagnosed with cancer at a young age (a hallmark of inherited disease), she also had genetic counseling and testing done, in this case through Fred Hutch’s Clinical Genetics and Genetic Counseling Service.
“My mom had breast cancer about 24 years prior,” she said. “At that time, her BRCA test was negative, so my sister and I assumed it was not genetic.”
Nhu-San’s older sister, Anne Nguyen, a 40-year-old project manager for Fred Hutch’s Clinical Research Division, also got tested. And their mother was retested. All came back positive for a BRCA2 mutation.
Genetic testing for a cancer risk gene can literally be a lifesaver. Not just for the person who learns they have an above-average risk for a particular cancer, but for their family members, as well. Cancer researchers and geneticists continue to discover new genetic mutations ― as well as new risky variants in known cancer-risk, or pathogenic, genes ― helping more and more men, women and children sidestep diagnosis and disease by turning to preventive measures like surgeries, medication and increased surveillance.
‘We’re learning new things all the time. Over time, variants are reclassified and shifted into different categories.’
― Dr. Tesla Theoryn, University of Washington’s School of Public Health
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Annual mammograms had been part of Anne Nguyen’s life ever since she turned 30. Cancer is a disease of aging, so a diagnosis in a family member under 50 ― her mother was diagnosed at 42 ― was a big red flag for a genetic predisposition.
“Patients with a family history of breast cancer are naturally at risk,” she said. “Early screening is everything. I knew I had to be proactive and stay on top of things from a young age.”
That’s why as soon as she learned she‘d inherited a BRCA2 mutation, she chose to undergo a prophylactic double mastectomy, a common practice most famously undertaken by actor Angelina Jolie in 2013.
“I started looking for a surgeon as soon as I had the testing done,” she said. “I met with one, established a surgery date and went in to do the pre-surgical MRI.”
That’s when she learned she’d already developed breast cancer.
“I was heartbroken,” she said. “I went from feeling like I was doing this on my terms, to finding out that a little lump that was missed on the mammogram.”
Similarly, genetic testing ― especially testing done years ago ― may not perfectly capture a person’s risk for cancer as scientists continue to find new harmful variants.
“When it comes to the field of genetics and cancer predispositions, every year, there’s new information,” said Rachel Yung, MD, co-director of Fred Hutch’s Breast and Ovarian Cancer Prevention Clinic.
Colleague Tesla Theoryn, PhD, who recently graduated from the University of Washington’s School of Public Health and its Institute for Public Health Genetics, agreed.
“We’re learning new things all the time,” she said. “Over time, variants are reclassified and shifted into different categories.”
This, she said, could be one reason why the sisters’ mother’s BRCA2 mutation wasn’t caught on her first genetic test.
Check your risk, based on lifestyle factors alone, with this free online tool created by Fred Hutch cancer prevention researchers.
Learn more about inherited cancer risk at a Fred Hutch specialty clinic.
The Nguyen sisters ended up going through treatment at roughly the same time, which they said was very “bonding.” They even got matching “warrior sister” necklaces to honor their joint journey.
Anne Nguyen had a double mastectomy followed by chemotherapy and five years of anti-hormone pills, which squelched the estrogen her breast cancer used for fuel. Since a BRCA2 mutation also put her at risk for tubo-ovarian cancer (most ovarian cancers actually start in the fallopian tubes), she had her ovaries and fallopian tubes removed, as well.
“There’s just so much more when it’s cancer,” she said. “Chemotherapy, five years of anti-hormones, the hot flashes and night sweats. It’s a lot. And it stays with you for life. BRCA2 puts me at risk for diabetes. And my bone density is not going to be the same. It’s not just your breasts that you have to worry about ― it’s your ovaries and everything else.”
Nhu-San Nguyen’s treatment was similar: a bilateral mastectomy, chemotherapy, radiation and anti-hormone therapy.
“My plan is to be on anti-hormones for a full 10 years,” she said. “Then I’ll be removing my fallopian tubes in December. My doctors recommended that I keep my ovaries for a couple more years for bone and cardiovascular health. I’ll get them removed in my mid-40s.”
Neither sister planned on having kids, so fertility preservation wasn’t something they chose, although many early-onset breast cancer patients opt to have their eggs frozen before chemotherapy, which puts women into premature menopause.
Both have decided to use their experience to advocate for genetic testing and early screening for breast and other cancers.
“It’s so important for people to remember to do their breast exams and get their mammograms regularly and not be afraid to go to a provider if they find a lump,” said Nhu-San Nguyen, who returned to school after treatment, completing her nurse practitioner degree. “It’s better to get worked up and catch it early, than go on thinking you’re young and healthy and that it’s not going to happen to you. It can ― that’s the thing.”
Anne Nguyen, too, is all about pushing for early detection ― and focusing on the bigger picture.
“My friends are worried about just getting a mammogram,” she said. “There’s a lot of fear just with that because of what they hear. It’s so frustrating ― you want to shake ‘em and say ‘Please do it!’ It’s two minutes of discomfort and it could save your life. It’s worth it.”
Also worth it: genetic testing if you have cancer in your family.
“Genetic testing and being proactive is everything,” she said. “I’m always on team proactive ― because the side effects, the hardship of going through chemotherapy and the rest of breast cancer treatment is a lot. It takes a toll on you mentally, physically and financially.”
Most cancers are not inherited. But some cancers tend to be passed down more than others.
“The three most common kinds of cancer that we see that are inherited are breast cancer, prostate cancer and colorectal cancer,” said Yung.
But there are others, especially in people who have inherited a cluster of pathogenic genetic variants, often referred to as genetic syndromes.
“When we think about BRCA2 [which contributes to Hereditary Breast and Ovarian Cancer Syndrome], we know that there’s increased risk of breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, melanoma and gastric cancer,” Yung said. “Potentially there might be other cancers. We find out more as we get more information and watch people longer.”
Genetic syndromes also cause rarer cancers, she said.
“There are syndromes where things like kidney or melanomas will run in families,” she said. “Lynch syndrome is another set of mutations or pathogenic variants; there are four genes that we typically think about in Lynch and those typically cause colorectal and endometrial cancer. Sometimes, there’s a predisposition to ovarian cancer and breast cancer.”
Yung said anyone who comes to the Fred Hutch genetics clinic ― either via their doctor or self-referral ― will receive genetic counseling and if desired, genetic testing. If a test reveals a pathogenic variant that might drive some type of cancer, then screening options are discussed.
“We’ll be looking for early-stage cancers that are small and easier to treat via mammography or MRI,” she said. “We know that BRCA1/2 carriers live longer and better if they do MRI screens in addition to mammography.”
The clinic will also do physical exams and blood tests if appropriate, Yung said, and talk about risk reduction through surgery, medication and lifestyle changes.
“We talk about alcohol minimization since we know that alcohol really is just a carcinogen,” she said. “We talk about exercise; we talk about weight management. For breast cancer, we have three medications we can also think about using ― medications that are used to treat breast cancer but also work to prevent it. It’s a growing field. We’re now looking into vaccines to prevent cancers from ever happening in the first place.”
The clinic also offers counseling to help people decide how ― or even if ― they want to proceed. Not everyone with cancer in the family will want to know if they, too, are at risk.
The Nguyen sisters, for instance, said one of their relatives doesn’t want to even get tested.
“They’re like, ‘What’s the point? If it happens, it happens.’ Sort of living in that ignorance is bliss place,” said Nhu-San Nguyen. “And that’s their choice. If you don’t want to intervene, then that’s your right. Personally, I wanted to know my risk and what I could do to prevent a recurrence. Going through cancer was awful ― I don’t want to do it again.”
Yung agreed that making decisions based on risk can be tricky. But counseling will help people understand the extent of their individual risk. Not all pathogenic variants carry the same degree of threat, she said.
“One in eight women gets breast cancer in their lifetime so that means in the general population, the lifetime risk is about 13%,” she said. “If you’re positive for BRCA2, it’s more like a 50% to 70% risk over your lifetime. If somebody has an ATM mutation, that’s sort of a 20% to 25% risk.”
Risk-reducing surgery is not recommended to everyone, she said, but “when the risk gets to be above 40%, that's when we start thinking about it.” But clinical decisions should never be made, she stressed, until the person has had counseling and a genetic test from a clinical provider.
“[Fred Hutch] uses what are called CLIA-certified labs which are very good about reaching back out when we reclassify something from a ‘variant of unknown significance’ into a pathogenic mutation,” she said. “They’ll tell people ‘This has been reclassified. Please go and see a genetic counselor.’”
Direct-to-consumer genetic testing companies don’t do this, a concern since new pathogenic variants are being identified all the time. Yung in fact recommends those who’ve had genetic testing 10 or more years ago to be retested.
“If you have a family history or a personal history and you got tested in the early 2000s, we have much better testing now,” she said. “And it's much cheaper. We can look for deletions and rearrangements, and we can look at RNA instead of just looking at DNA. So there’s a lot that we can do in terms of testing now.”
Direct-to-consumer tests, she said, aren’t intended for clinical action.
Theoryn, the recent UW graduate, worked with Fred Hutch/UW Medicine researchers on two studies to follow up with people who declined free genetic testing through two large multi-state studies.
The Early Detection of Genetic Risk (EDGE) study offered free genetic testing to primary care patients in three states ― Washington, Montana and Wyoming ― while MAGENTA (MAking GENetic Testing Accessible) offered it to a national cohort. Theoryn interviewed participants in both studies to understand their reasons for declining testing, soon after the offer in the case of the EDGE study, and years later for those in the MAGENTA trial.
“The big takeaway was that most people were interested in genetic testing and felt it would be a meaningful activity,” she said. “People want to get tested even if they had concerns, but logistics often stood in the way.”
Reasons for declining a test, she said, included cost, concerns over privacy, concerns about discrimination (particularly with regard to health or life insurance) and past medical injustices, particularly around the use and exploitation of DNA without consent (think Henrietta Lacks).
Overall, the research clearly showed that people’s attitudes toward testing were fluid, not fixed.
“People made the decision not to be tested based on their concerns at that moment,” she said. “We found if a provider re-offered the test at a future appointment, we might see a different outcome.”
For the Nguyen sisters, who watched their mother go through breast cancer when they were in their early teens ― and again, more recently, when she experienced a local recurrence as they were recovering from their own treatment ― it’s all about facing cancer and its risks with eyes wide open.
“It’s better to be proactive,” said Anne Nguyen. “Especially after what I went through, what my sister went through, what my mother went through. I was trying to be proactive, and it sucked that I ended up with cancer anyway, but if I hadn’t acted, the lump would have gotten bigger and when they finally found it, I would have needed more chemo, maybe radiation or who knows. I’m just grateful to be here.”
Diane Mapes is a senior editor and writer at Fred Hutch Cancer Center, who's written for NBC News, TODAY, CNN, MSN, Seattle Magazine and other publications. A breast cancer survivor and patient advocate, you can reach her at dmapes@fredhutch.org or doublewhammied.com / @double_whammied / @doublewhammied.bsky.social. Just diagnosed and need information and resources? Visit our Patient Care page.
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