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Fighting Lynch syndrome with information and vigilance

May 04, 2023 | Shari Roan
Andrea Barnow is fighting Lynch syndrome, a genetic mutation that puts her at high risk for colon and other cancers, with regular screenings.

After learning she had Lynch syndrome, Andrea Barnow began taking every precaution to protect her health. "I am vigilant," the ovarian cancer survivor says. Photo by Michael Der

In early 1992, Andrea Barnow found herself in the fight of her young life. She was diagnosed with ovarian cancer and underwent surgery to remove one ovary followed by chemotherapy. Four months after finishing chemo, a noncancerous cyst was found on her remaining ovary.

Stunned by the discovery, the 30-year-old woman took a drastic step. She had her uterus and her remaining ovary and fallopian tube removed to prevent cancer from developing in those organs. Then came another blow: Her mother was diagnosed with a second bout of ovarian cancer and died the following year at age 60.

“It was devastating,” recalls Barnow, who worked for a large healthcare company that made surgical equipment. “I also knew that my grandmother — my mother’s mother — died when I was a child. All the family knew was that she had cancer all over her abdomen.”

It seemed like rotten luck. But it was more than that. It was genetic destiny. Nearly 20 years after her diagnosis, Barnow learned she had inherited Lynch syndrome, a genetic disorder that put her at high risk for colon, ovarian and uterine cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, urinary tract, brain and skin. Lynch syndrome, it turns out, was at the root of her family’s cancer history.

That discovery, while sobering, was a gift, Barnow says. Now 60, she successfully manages her heightened cancer risk with regular screenings and tests at the UCI Health Digestive Health Institute and with doctors near her home in Westwood.

“Information is power,” she says. “I can do the proper surveillance to keep myself alive.”

The most common familial cancer syndrome

As unsettling as Barnow’s story is — a multigenerational family plagued by cancer — it is not unusual. Lynch syndrome is far more common than the better-known BRCA gene mutations, which predispose an estimated 1 in 500 U.S. women to breast and ovarian cancer.

An estimated 1 in 300 U.S. men and women carry Lynch mutations, giving them up to an 80% lifetime risk of developing colorectal cancer. Women also have up to a 60% lifetime risk of developing endometrial cancer and a 38% risk for ovarian cancer. The risk of developing cancers of the stomach, urinary tract, pancreas and brain ranges from 1% to 18% in men and women.

Dr. William E. Karnes, a gastroenterologist at the Digestive Health Institute, laments the lack of awareness about the syndrome — also called hereditary nonpolyposis colorectal cancer — among patients as well as doctors.

“Primary care doctors are extremely busy, and while a whole family history is important, it often isn’t gathered,” says Karnes, a professor at the UCI School of Medicine for whom raising awareness about Lynch syndrome is a professional priority.

“Patients often don’t know their family history. This genetic syndrome is a lot more common than anyone realizes and the vast majority of people have no clue they have it.”

He recommends talking to a physician or genetic counselor if three or more close relatives over a few generations have had cancer, especially if one of them had colon, uterine or ovarian cancer before turning 50.

Barnow’s case illustrates how warning signs are often missed. Early in her medical device sales career, she learned about Lynch syndrome. At doctor’s appointments, she always mentioned her family’s cancer history and asked about a potential Lynch connection. Besides two bouts with ovarian cancer, her mother also had colon cancer. Her father had colon and prostate cancer. He died before undergoing any genetic testing, so she doesn’t know if he, as well as her mother, carried Lynch syndrome gene mutations.

“I remember talking to my doctors about Lynch syndrome and no one would listen to me,” she recalls.

Finally, at age 50, Barnow saw a gastrointestinal specialist in Santa Monica for a routine colonoscopy. He suggested that she get tested for Lynch syndrome after learning about her personal and family history. He happened to have a saliva-based test kit in his office. Within minutes she was on the road to personal health empowerment.

“When I learned the result, I was not completely surprised, but I was frustrated that more healthcare professionals didn’t know about this syndrome,” she says.

A family affair

When people test positive for Lynch syndrome, genetic counselors not only educate the patient on ways to manage their own risk, but also help them understand the potential risk for other family members.

“Genetics is a family affair,” says UCI Health genetic counselor Deepika Nathan, an associate professor at the UCI School of Medicine. “You test one person and depending on how big your family is, you can be helping one or two dozen people."

At-risk family members also need to know what they can do to detect cancer early or prevent it, Nathan adds.

Barnow’s brother and sister jumped at the chance to be tested, knowing they had a 50-50 chance of inheriting the condition. Her sister tested negative; her brother, who tested positive, now follows a rigorous screening protocol like Barnow's.

Knowing you have a higher risk for multiple cancers can be daunting, but regular physical exams, blood and urine tests, skin checks and other cancer screenings can change those odds.

“The screenings can be broadly classified into colon cancer screening and extracolonic screening, which includes other gastrointestinal screening tests," Nathan says. "We also refer women to high-risk uterine and ovarian cancer specialists.”

People with Lynch syndrome undergo colonoscopies more frequently — annually in Barnow’s case — because benign polyps found in the colon can become cancerous far faster than in people who do not carry the mutations. In addition, they tend to have flat polyps that are more difficult to detect.

“The genes involved in Lynch syndrome normally work together to ensure that your DNA is replicated accurately," Karnes explains. "It’s like a machine that looks for mistakes. If it finds a mistake, it will cut out the flawed material and repair the mistake. If you have the Lynch mutations, however, the whole machine doesn’t work as well and mistakes slip by.”

By staying up-to-date with colonoscopies, Lynch syndrome patients can significantly lower their risk of developing advanced colorectal cancer. “The goal is to keep an eye on things and catch problems early," he says. "Every polyp removed during a colonoscopy can’t turn into cancer.”

Leading-edge colonoscopy services

The Digestive Health Institute is home to some of the most innovative work in digestive disease and cancer prevention in the United States. Karnes, himself, has developed an application for performing colonoscopies using artificial intelligence, a technology that is rapidly gaining acceptance across the country.

“Artificial intelligence has been shown to increase the detection rate for polyps, including hard-to-find flat polyps,” he notes. Karnes and his colleagues have also led a national effort to help doctors improve their colonoscopy skills.

“If you look at national adenoma (polyps) detection rates among colonoscopists, they can vary from 7% to 50%,” he says. “The adenoma detection rate should be 40% to 50% for a good colonoscopist. We keep very close tabs on the quality of our colonoscopies.”

Barnow chooses her physicians carefully, selecting Karnes because of his expertise in Lynch syndrome and skill in performing colonoscopies. “He takes his time,” she says. “When he is looking, he is expecting to find something. I know this is the person who will help keep me alive.”

Now retired, Barnow is busy raising teenage twins with her husband of 21 years. They created their family with the help of egg donation and surrogacy. Although her calendar is dotted with myriad medical appointments and screenings, she still finds time to play pickleball with family and friends and lives her life to the fullest.

“I know what cancer does to a person — I’ve seen two parents die from it," she says. "I am an advocate for myself. If I get cancer, we’ll catch it early. I will do everything I can. I am vigilant.”

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