Family With CDH1 Gene Navigates Cancer Risk & Treatment

Elizabeth Sowers

"There's not a single thing I won't do to save my life."

Elizabeth Sowers, a 43-year-old sociology professor from Camarillo, California, speaks with a "get it done" attitude that she may have inherited from her father.

"He was a tough, formidable guy," she recalled, "6-foot-2, 200 pounds, fond of saying 'Life's not fair. Get over it!'"

Sowers' mom and dad presided over what she calls "the world's greatest family," which includes an older sister, Anne, and a pair of younger twin brothers. She remembers growing up as a self-proclaimed nerd who took ballet and cheerleading. She is especially close to Anne - they're two years apart but "we're the real twins!" she says, laughing.

Sowers remembers one day in particular that felt especially blissful.

"My college graduation in 2003. I'm 20, I have my whole life ahead of me, everyone in the family is alive and well, no cancer anywhere..." her voice trails off.

"I think about that day a lot."

In 2007, Sowers' father mysteriously got sick. He was initially diagnosed with colon cancer, requiring surgery. Barely two years later, a host of new and perplexing symptoms appeared. He lost half his body weight, and his abdomen would regularly swell with fluid.

Scans detected no tumors, so doctors tried exploratory surgery, where they discovered, to their horror, "cancer everywhere." He died two days later. Was he misdiagnosed? No one could say.

Sowers was shattered by the sudden loss of her father and the doctors' apparent cluelessness. "It's hard to have faith in science when that happens," she said.

Then, in 2022, Sowers' mother developed stage 4 glioblastoma, an aggressive brain cancer, which took her life 14 months later. At almost the same time, her sister, Anne, was diagnosed with breast cancer.

It was too much for Sowers to bear. "My life was falling apart," she recalled. "It was devastating to watch what happened to both my parents; they were such tremendous human beings. And then my sister..."

But her sister's cancer also set off warning alarms. Anne's doctors, who'd known about Dad's illness, did not believe the two diagnoses were merely a sad coincidence. They recommended genetic screening.

The results could not have been worse.

A Deadly Genetic Mutation

Elizabeth Sowers with her family.

A vicious, deadly mutation in the CDH1 gene was lurking in the Sowers family.

When it works properly, CDH1 produces a protein that helps cells cling to each other to form tissues. This same protein also stops cells from growing or dividing too rapidly, causing tumors.

But if something goes wrong, the person with the CDH1 mutation runs an extremely high risk of two cancers in particular: lobular breast cancer and hereditary diffuse gastric cancer (HDGC), an incredibly aggressive, tough-to-detect stomach cancer that runs in families.

Both Sowers and her sister carry the mutation, and in all likelihood, their father's "colon" cancer was actually HDGC, but most doctors would never have caught it.

"That's because gastric cancer is not that common, but colon cancer is," explained City of Hope surgical oncologist Yanghee Woo, M.D., director of City of Hope's Gastroenterology Minimally Invasive Therapy Program. HDGC also doesn't produce conventional-looking, easier-to-detect tumors; rather, it thickens and hardens the stomach lining. It's one reason why patients with HDGC often don't get correctly diagnosed until later stages of the disease, when survival rates are grim.

Patients with the CDH1 mutation but no symptoms have a difficult decision to make. Prophylactic surgery is the only reliable way to overcome their high cancer risk and prevent the virtually inevitable. That means a double mastectomy to avoid breast cancer, and removal of the stomach to stop HDGC before it strikes.

Not surprisingly, patients faced with this choice may hesitate. Life after mastectomy is challenging enough, they may think. But how can one live without a stomach?

Quite well, says Woo.

"People think the stomach is essential, but it's not," she said. "Hundreds of thousands of people are living without their stomachs," she said. "You do not need your stomach in order to live. You can lose it like a kidney or your appendix. Yes, you'll be thinner. You'll eat less. And yes, you'll have some deficiencies requiring supplements like iron and B12 (normally absorbed through the stomach from food.) But you'll be alive.

"Hereditary diffuse gastric cancer is an ugly, relentless cancer that we need to prevent and catch early to preserve life."

It was the desire to avoid that ugly relentlessness - which, in retrospect, is what the sisters now realize their father was going through - that motivated Anne, a mother of two who lives in northeastern Wisconsin, to take action when her breast cancer appeared.

"Learning I had CDH1 was like a giant floodlight shining down on my head from my dad," she said. She's had the mastectomy and plans to schedule her stomach surgery after she's through taking her post-mastectomy medications; you need your stomach to better absorb them.

"I have seen how this cancer goes," she continued, recalling her father's painful ordeal. "And I know (this surgery) will help me avoid my father's end."

A Team Approach to Cancer Prevention

Yanghee Woo, M.D.

Inspired by her sister, Sowers, who was showing no symptoms whatsoever, nevertheless got in touch with City of Hope.

"I'd read many stories from people about Dr. Woo," she said. "And that first meeting with Dr. Woo changed my life. I really liked her energy, how she told me everything straight. Just the way I am!" After their conversation, Sowers understood she'd have some tough recovery time. But Woo's reassurance put her at ease. The terror was gone.

"Patients tell me they're afraid of the unknown," explained Woo. "They find a sense of trust and security when they realize someone will be looking out for them. I try to understand their needs and help them feel comfortable. And I make sure they know they're not alone. Our team is committed to each patient for life."

First though, Sowers wanted to schedule her mastectomy, and here is where extra thoroughness by a City of Hope physician made a crucial difference.

Breast cancer surgeon Lorena Gonzalez, M.D., insisted on additional scans, beyond what Sowers had already provided. Sowers wasn't quite sure why they were necessary, but in short order, she found out. The tests detected the presence of thyroid cancer, a totally unexpected result.

Sowers points to the scar on her neck. She had surgery to remove her thyroid in May 2025. If all goes well, she'll undergo the mastectomy this fall. Woo will perform the stomach removal surgery in early 2026.

It's hard to use the word "lucky" when talking about someone carrying a lethal mutation requiring so much life-altering surgery. But Sowers uses the word freely. Like her sister, she feels lucky to have dodged the fate that befell her father and to have found the right people to take care of her.

"I'm lucky to have the expertise and humanity at City of Hope," she says. "It's a whole other level of care. Not like other hospitals where you can feel out of control, disjointed and alone. I feel very supported."

She has taken full advantage of City of Hope's Supportive Care offerings, from little things like painting rocks in the community garden, to speaking to a social worker who reached out simply because Sowers had written "I worry a lot" on one of the many hospital forms.

"I was so afraid," she said. "Doctors at City of Hope changed that, with their steady focus, their assuredness, and their scientific maturity."

"My part is to do my best."