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Genetic testing: How four generations of a family have battled multiple cancers

When Cheri Pribyl underwent her annual mammogram in 2019 at Cleveland Clinic Weston, she was doing what came naturally to her: acting responsibly when it came to her own health.

What the 57-year-old mother of two daughters had no way of knowing was that the appointment would eventually lead to a discovery that could potentially save the lives of multiple relatives.

Here’s what happened:

While Pribyl was undergoing the mammogram, an attentive technician read through her medical history and noted the extensive history of cancer in the women in Pribyl’s family.

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To wit, Pribyl’s grandmother, mother and multiple aunts had all died of either colon cancer, breast cancer or uterine cancer before the age of 65. In addition, at the time her only surviving aunt was battling rectal cancer.

Pribyl and her two siblings had always attributed the family’s cancer history to them living in the infamous Love Canal neighborhood, which was adjacent to a toxic dumping site near Niagara Falls, New York — and where her mother and extended family grew up.

Cheryl Pribyl's mom (bottom right) and three aunts. Three of the four (including Pribyl's mom) have all died of either colon cancer, breast cancer or uterine cancer before the age of 65 — and the surviving aunt has battled uterine cancer, colon cancer and kidney cancer.
Cheryl Pribyl's mom (bottom right) and three aunts. Three of the four (including Pribyl's mom) have all died of either colon cancer, breast cancer or uterine cancer before the age of 65 — and the surviving aunt has battled uterine cancer, colon cancer and kidney cancer.

The technician suggested to Pribyl that she might want to investigate her, and her family’s, predisposition toward developing cancer via genetic testing available at Cleveland Clinic.

“Sure enough, after I did the genetic testing, I found out that I had a genetic mutation for Lynch syndrome — which my doctors told me significantly increased my odds of developing colon cancer, breast cancer, uterine cancer and/or stomach cancer,” recalled Pribyl, a Sunrise resident who works for the Broward County School Board.

According to the Mayo Clinic, “Lynch syndrome is a condition that increases the risk of many kinds of cancer … [and] this condition is passed from parents to children.”

The National Institutes of Health estimate that Lynch syndrome — which used to be called hereditary nonpolyposis colorectal cancer — affects anywhere from 1 in 300 to 1 in 500 people in the U.S.

Genetic testing aids hunt for cancer-causing mutations

Genetic testing has come a long way in the past several decades — and continues to evolve.

Cleveland Clinic genetic counselor Sara Rhode explains that in the case of Lynch syndrome "genetic testing has been available since the early 1990s for three of the genes associated with the condition — and clinical testing for another gene associated with it (PMS2) became available a little more than a decade ago."

As with most medical breakthroughs, the health insurance industry was slow to embrace covering the cost of the testing ― which consists of a simple blood test that usually runs around $250 if the patients pays out of pocket.

"Genetic testing for Lynch syndrome used to be very challenging to get covered by insurance and often required a personal history of colorectal cancer diagnosed prior to age 50 or a personal history with a very strong family history ― that is, three or more relatives with certain cancers," Rhode explains. "Nowadays, while the guidelines have been updated to include coverage for testing for those who have a family history, not every insurance plan will do so."

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Rhode notes that currently Medicare "might be the only insurance that only covers the testing if you have a personal family history with certain cancers."

That said, she encourages those who think they might have a family history with certain cancers to discuss the issue with their physician and consider approaching their insurance provider with the evidence that they could benefit from genetic testing.

Shock and then action

Once Pribyl learned about her positive results for Lynch syndrome, she was stunned.

“When I first found out, I was in shock,” she said. “But it made so much sense when I sat down with my genetic counselor, Sara [Rhode], and she explained about this gene. Because of my history, I thought our cancer history was due to the environment. Learning this information was like a key that unlocked a door that I didn’t know was locked. It was scary at first, but I had a tool to help my children and my sister.”

Cheri Pribyl (in orange blouse) with her sisters Joy and Kendra, and the sisters' late mom Christine. A history of cancer runs in the family with Pribyl's grandmother, mother and several aunts having all died of either colon cancer, breast cancer or uterine cancer before the age of 65.
Cheri Pribyl (in orange blouse) with her sisters Joy and Kendra, and the sisters' late mom Christine. A history of cancer runs in the family with Pribyl's grandmother, mother and several aunts having all died of either colon cancer, breast cancer or uterine cancer before the age of 65.

Pribyl’s first order of business was to undergo a prophylactic hysterectomy to prevent uterine cancer.

After she recovered from that procedure, she underwent a colonoscopy and made sure that her daughters, Rachel and Rebecca, both of whom were in their 20s, underwent genetic testing.

Both daughters tested positive for the genetic mutation.

“It was extremely scary for them when they learned that they had the same condition that their mom and so many of their female relatives had,” said Pribyl. “It was a real-life wakeup call. Rachel says she’s conflicted in that she wishes she could be in the dark about her risk — but that she’s also thankful because she can take action.”

Both daughters underwent colonoscopies — and it’s a good thing they did because it turned out that Rachel, who’s now 26, had an aggressive polyp that would have turned cancerous had it not been removed.

Testing helped family head off new cancers

Concurrent to Pribyl and her daughters taking swift action, so too did Pribyl’s sisters.

Not only did her sister Kendra (Baselice) test positive for the mutation, but so too did Kendra’s son Michael.

Just as Pribyl did, Kendra underwent a prophylactic hysterectomy and has become vigilant about having regular colonoscopies.

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And it turned out, 20-something Michael had a colonoscopy experience similar to his cousin Rachel: He too had an aggressive polyp removed.

“Both of my sisters have thanked me repeatedly that I underwent the testing and was able to warn them and their children about their potential risks,” said Pribyl.

You know you're predisposed to certain cancers ― now what?

Cheryl Pribyl with her daughters Rachel and Rebecca. After Cheryl found out that she tested positive for the genetic mutation Lynch syndrome — which significantly increases the odds of developing colon cancer, breast cancer, uterine cancer and/or stomach cancer — Rachel and Rebecca both underwent genetic testing and found out they too have the mutation. So too does one of Pribyl's two sisters, as well as that sister's son (Pribyl's nephew).

Because Rachel and Michael had polyps discovered at such young ages — Rachel at 21; Michael at 25 — they had to undergo colonoscopies every three months at first and gradually were able to decrease the frequency to every six months.

Now both do them annually.

Because Rebecca, now 30, has yet to have a polyp discovered, she has a colonoscopy every two years.

According to genetic counselor Rhode, Rebecca and Rachel have a 50% chance with each pregnancy of passing on the Lynch syndrome mutation to their children.

In addition to the regular colonoscopies, Pribyl, her daughters, sister and nephew are also now undergoing regular endoscopies to check for stomach cancer.

“My doctor found polyps in my esophagus and stomach, so now we have proof that the endoscopies are as important as the colonoscopies,” explains Pribyl.

As challenging as the past few years have been for Pribyl, her daughters and extended family, she believes that genetic knowledge is power — and encourages others to take advantage of it.

“If you have a family history of cancer, there’s now this amazing technology available to really help you understand your risks and your relatives’ risks,” she says. “Discuss it with your doctors, make them aware of your history and consider using this incredible tool. I know for a fact that it’s already helped prevent cancer in my family and maybe it can in yours too.”

This article originally appeared on Palm Beach Post: Lynch syndrome: Genetic testing a valuable tool in cancer risk assessment