For Josh Henderson, 66, of Olympia, getting genetic testing was a no-brainer.
“The first time I came to Fred Hutch, my oncologist suggested it,” said the retired IT manager who received a metastatic prostate cancer diagnosis in 2022. “I have an interest in science, and I was curious, so I decided as long as the insurance pays for it, I’d do it.”
It did, so he did, and a blood sample was sent off for analysis. Soon after, he learned his cancer was indeed driven by a genetic mutation or variant, but not one he knew anything about.
“I’d never heard of CHEK2, but I had a genetic counseling session where they explained what it was and how it can inhibit DNA repair,” he said. “It was an ‘Aha!’ moment. My great grandfather and great uncle both died of colorectal cancer. And that can be caused by a CHEK2 mutation.”
Why wasn’t he offered testing earlier, considering his family history of cancer?
“I didn’t have cancer in my immediate family, so everybody discounted it,” he said. “But my first visit to a urologist was when I was 40. My prostate was a little enlarged then, but my urologist said there was nothing to worry about since there was no family history.”
Research shows germline genetic testing — testing for a cancer risk gene you may have inherited — can save lives. Not just the patient’s, but their family members, as well. But not everyone realizes they have cancer in the family and those who do know of their family’s cancer history may not want to know if they themselves carry a risk for the disease.
Still others — like Henderson — may not know they qualify for genetic testing. Hereditary Cancer Awareness Week, which runs all this week, provides an opportunity to reflect on family health history and on all the ways we can keep our families healthy in the future. Read more about how to determine if you have hereditary cancer in your family.
Learn more at the
National Society of Genetic Counselors Annual Conference
Nov. 6 – 10 | Seattle
https://www.nsgc.org
Fred Hutch Cancer Risk Assessment, Prevention & Screening Clinics & Programs
Henderson received his first PSA (prostate specific antigen) test at 63. That’s also when he received his diagnosis.
“The PSA came back as 48 [very elevated],” he said. “I had low-volume metastasis.”
He still appreciated having the knowledge, not just for himself but for his family. Certain variants of CHEK2 may increase a person’s risk for breast, ovarian, prostate, thyroid and other cancers.
“I’m the type that wants to know everything and I’m also a strong believer in ‘forewarned is forearmed,’” he said. “It’s good to know these things. Although I do still wonder if genetic testing had been available earlier, it might have been something I could have nipped in the bud.”
It’s a good question, one that Fred Hutch Cancer Center clinicians grapple with more and more.
“If we can identify patients with inherited cancer risk variants through genetic testing, they’ll have more treatment options,” said Heather Cheng, MD, PhD, recently named Fred Hutch’s Clinical Director of Cancer Genetics.
This is especially true, she said, with advanced prostate, breast, pancreatic or ovarian cancers.
“There are FDA-approvals for a class of drugs called PARP inhibitors which are especially effective for treating prostate cancers with certain inherited cancer risk genes,” she said. “Our research shows more than 10% of patients with metastatic prostate cancer carry hereditary cancer risk gene variants, including in genes such as BRCA2.”
According to the National Cancer Institute, or NCI, up to 10% of all cancers may be caused by inherited genetic changes. But not all cancer risk genes have been identified. And not all people who are candidates for genetic testing have received it. Testing for increased cancer risk variants of BRCA1 and BRCA2, among the most well-known cancer risk genes, in fact, is woefully underutilized, including in Washington state.
The Community Cancer Care Report put out by Fred Hutch’s health economics institute HICOR, found only 63% of patients with breast cancer and only 55% of patients with ovarian cancer received genetic testing for BRCA1 or BRCA2. And though they’re also linked to BRCA1 and BRCA2, only 15% of patients with pancreatic cancer and 6% of eligible patients with prostate cancer received genetic testing.
Photos courtesy of Josh Henderson and Art Chmura
In some cases, it’s simple lack of awareness — either on the part of a patient or their physician. Others may be hesitant to test for genetic risk variants as they may believe it will affect their health insurance, life insurance or employment. Some people may be worried about cost. Anxiety can play a factor, as well, as some simply prefer not to know.
One group in particular stands out as not regularly opting for genetic testing: men.
“Men have genetic testing done ten times less than women, even though half the people who carry cancer risk gene variants are men,” Cheng said.
Unfortunately, patients who aren’t tested for cancer risk gene variants may miss the opportunity to benefit from new targeted therapies such as PARP inhibitors and immune checkpoint inhibitors. Similarly, their blood relatives may miss out on a better understanding of their risk for a number of cancers as well as the opportunity to be proactive.
Still, awareness remains low. While many have heard of BRCA1 and BRCA2 — named in part for their link to BReast CAncer — many more don’t realize that these risk genes are just the start. Not only do BRCA mutations drive other cancers, there are dozens of other cancer risk genes beyond BRCA1 and BRCA2, including some that have yet to be identified. And genetic testing is increasingly an essential part of precision cancer treatment and care.
Henderson, who runs the website for www.OlyUsToo.org, the Olympic chapter of Zero Prostate Cancer, said it’s crucial for men with prostate cancer to be offered genetic testing, especially if they have blood relatives — parents, grandparents, aunts, uncles, siblings, children, nieces, nephews — with cancer.
“It’s tough to get men to do anything related to their health,” he said. “But I want them to know how important this is for them.”
Certain cancers are more likely to be linked to an inherited cancer risk gene variant, Cheng said. Those include breast cancer (especially in people diagnosed younger than 50), ovarian, pancreatic and prostate cancers as well as colorectal cancers that hit at a young age. Some endometrial cancers are also associated with genetic conditions.
“There are also important cancer risk gene variants that impact blood cancers such as leukemia and lymphoma,” she said. “But not all gene variants have been found. And not all of those that have been found are understood well.”
And though there are dozens of cancer risk gene variants that can increase the risk of cancers, Cheng said most people don’t understand that BRCA1 and BRCA2 variants can increase the risk of cancers not only in women but also in men.
“There is a lack of awareness regarding the importance of BRCA1 and BRCA2 for men and their risk of prostate and potentially pancreatic cancer, too,” she said. “There needs to be more general awareness of the importance of these, especially for men. If we can encourage families to have those discussions and encourage men to get genetic testing if appropriate, more people can understand their risk better and ideally benefit from this knowledge to take proactive health measures.”
Photos courtesy of Angela Broderick and Peter Lindsay
“I was sitting in the waiting room waiting to see Dr. Evan Yu when my younger brother called and said he’d just been diagnosed with prostate cancer,” said Art Chmura, 79, of Renton, who came to Fred Hutch for treatment following a prostatectomy.
Yu quickly pointed Chmura toward Cheng’s GENTleMEN study, where he was tested for 70 different gene mutations. That’s how he learned his prostate cancer was driven by an NBN gene mutation, associated with breast, prostate, lung and pancreatic cancers.
“It turns out that particular gene is found in people from Slavic extraction,” he said. “And my grandparents on my father’s side moved to the U.S. from Poland.”
His genetic counselor suggested he share the information with his family so they could also be tested, a practice known as cascade testing.
“Cascade testing is like a waterfall,” explained Mercy Laurino, MS, PhD, Fred Hutch’s director of Cancer Genetics and Prevention. “When a disease-causing genetic mutation or variant is first identified in a patient, that information flows to blood relatives, guiding us step-by-step to those who may also be at risk. Just as water cascades from one level to the next, this testing helps us trace the path of inherited risk through family, revealing who should be tested next. If someone tests negative for the familial gene mutation, their next generation is not at risk to inherit from them.”
The genetics team tries to determine which side of the family the genetic mutation comes from and what siblings may or may not have it. Patients who are the first in a family to learn of a cancer risk gene variant — importantly, these don’t guarantee cancer will develop but rather alerts someone to be more vigilant — receive resources and are encouraged to share findings with family. The Fred Hutch Genetics Clinic will then facilitate their testing for relatives.
“I’ve had the opportunity to see multiple members in the same family and not only help those with prostate cancer but also help their relatives without cancer feel better informed about their risk and work with them to take proactive measures through our many cancer prevention clinics,” she said. “It’s deeply rewarding. And it’s deeply appreciated.”
Chmura was so inspired by the knowledge he gained, he contacted several members of his family, calling it an “extremely easy decision.”
“Nobody wanted to talk about cancer 50 years ago so there’s a lot of family history that’s unknown,” he said. “But it’s so important to talk about it and to share. All siblings and children have a 50% chance of inheriting this defective gene. And it’s not just the men who have to worry about prostate cancer, it’s also women who have to be concerned about breast cancer.”
— Fred Hutch’s Clinical Director of Cancer Genetics Dr. Heather Cheng
In addition to early-onset and rare cancer diagnoses, like a man with breast cancer, Laurino said there are other signs a cancer could be hereditary.
“It’s suspected when a person has two different types of cancers,” she said. “For example, a woman with both colorectal and uterine cancer. Our doctors help identify these cases.”
Such was the case for Peter Lindsay, a 49-year-old Seattle operations manager who was diagnosed first with prostate cancer and then, while undergoing additional scans, discovered he also had kidney cancer.
The kidney cancer was very small. But the impact on his psyche — learning he had two cancers and needed to be tested for an inherited cancer risk syndrome — was huge.
“It was very easy to do the genetic test, you just spit in a vial. It’s not invasive at all,” he said. “But it affects you in a deep way.”
Lindsay’s cancers were linked to Lynch syndrome, a family of gene variants that increase the risk of colorectal, pancreatic, endometrial, ovarian, gastric, brain and prostate cancer, among others.
“I’d never heard of it," he said. “Although my first thought was ‘This makes sense’ because of the history of cancer in my family. Lynch syndrome is most often associated with colorectal cancer, but it has a correlation with others. My father passed away from a brain tumor. In a way, I was glad to know there was an explanation. It was better to know.”
Today, he credits his knowledge of his family’s cancer history — and the primary care provider who paid attention when he shared it — with saving his life.
“I told my PCP that my uncle had prostate cancer, and she said we would immediately start PSA testing,” he said. “At a wellness exam in 2023, my PSA had gone up, so she referred me on to UW Urology for a follow-up and that’s when was diagnosed with stage 3 prostate cancer.”
Now, he’s pursuing similar testing for his sons.
Not everybody knows their family health history, of course. Some folks are adopted. Others may be estranged. Not a problem, Fred Hutch genetics experts say. You can still get genetic testing.
“It’s actually pretty common that we see people who are adopted or don’t know much about their family history,” said Fred Hutch genetic counselor Austin Bland, MS, CGC. “In those instances, we can still do genetic testing on people especially if they themselves have a history of cancer.”
Those who do learn they have a hereditary cancer, will often be seen in a specialty clinic.
Cheng runs the Prostate Cancer Genetics Clinic and sees patients in the Genetic Clinic, along with serving as the medical oncologist for prostate cancer patients.
Additionally, Fred Hutch offers a Breast and Ovarian Cancer Prevention Clinic, a Gastrointestinal Cancer Prevention Program, a Hematologic Malignancy Genetics Clinic and a High-Risk Cancer Surveillance Clinic.
“Our multidisciplinary team of cancer genetics and prevention experts are here to help,” Cheng said. “Finding out one has an increased cancer risk can be scary at first, but every single member of our team is dedicated to creating a place where patients feel empowered by understanding their genetic risk and supported by a team dedicated to their care.”
In addition to regular prostate and kidney cancer surveillance, Lindsey is cared for in the Fred Hutch’s Lynch Syndrome program, part of the GI Cancer Prevention Clinic.
“For some patients, it can be complicated to coordinate all the different kinds of cancer surveillance activities they need to do,” Cheng said. “There may be multiple steps, schedules, studies and specialists. We can help coordinate this for patients.”
But the specialty clinics provide more than just support and coordination.
“A lot of the tools in the diagnostic realm are uncovering more instances of hereditary cancers where they might have been missed before,” she said. “Maybe the family history wasn’t especially notable, but a hereditary cancer risk gene is suggested because of DNA testing of the tumor itself. We’re always looking for ways to advance knowledge and innovate at Fred Hutch.” Read more about Fred Hutch’s Prostate Cancer PROMISE registry.
Part of that work is arming families and cancer patients with tools to help them lower their risk. A genetic predisposition for cancer be exacerbated by lifestyle factors and environmental exposures, she said.
“If people have this information, they can be monitored and screened for cancer differently; they can reduce their risk by better health care choices,” she said. “Some people may not realize alcohol is a cancer risk. And for those at risk for pancreatic cancer, it’s especially important to monitor blood sugar levels and early signs of diabetes.”
Cheng said she understands some people “don’t want to know yet,” but she believes it’s all in how you look at it: “If there was nothing we could do about a risk, it feels like a burden. But if there are known actions to minimize that risk, it becomes an opportunity.”
When Angela Broderick, 48, of Friday Harbor, learned her breast cancer was driven by a PALB2 inherited mutation, which carries a risk for breast, ovarian and pancreatic cancer, she seized as many opportunities as possible.
“I’m doing everything,” she said. “I’ve reached out to the nonprofit FORCE, at FacingOurRisk.org. I had my ovaries and fallopian tubes taken out because I felt they were ticking timebombs. I’ve been in the High-Risk Surveillance Clinic and asked them about pancreatic surveillance. I’ve met with the folks in Survivorship. I’m doing as much as I can to reduce my risk.”
Broderick said she felt empowered by her genetic results, especially after learning there may have been cancer in her family, but “people never talked about it.”
“I felt extremely empowered to have that information and to share it with my family now,” she said. “And when I shared it, I passed along resources from the genetic counselor, my test results and even a family tree. I told them, ‘This is yours to do with what you will.’
“But I also told them to keep in mind that the information wasn’t just for them,” she said. “It was for generations of the family that haven’t even been born yet.”
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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Are you interested in reprinting or republishing this story? Be our guest! We want to help connect people with the information they need. We just ask that you link back to the original article, preserve the author’s byline and refrain from making edits that alter the original context. Questions? Email us at communications@fredhutch.org
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