March 22, 2021

An inheritance she never wanted

Karen Betzler was shocked to learn she has Lynch syndrome, the most common cause of hereditary colon cancers. Thanks to her care team, she’s managing her risk.

The oldest of 7 siblings, Karen Betzler shares a lot with her brothers and sisters — from their hazel eyes and freckles to their love of swimming and board games.

Three years ago, she learned she has something else in common with 5 of her siblings: an inherited condition called Lynch syndrome.

Caused by mutations, or changes, in certain genes,  Lynch syndrome greatly increases the risk of colorectal cancer. People with the condition also have a higher chance of developing uterine cancer and other cancers.

“The genes involved in Lynch syndrome are called ‘mismatch repair genes,’” explained Laura Kellogg, a genetic counselor at Kaiser Permanente. “Their job is to fix damage that occurs to your genetic material, or DNA. If the Lynch genes aren’t working properly, then you can accumulate damage, and that damage can lead to the development of cancer.”

“It was kind of a shock to get that diagnosis,” said Betzler, who works as a cardiovascular sonographer at the Kaiser Permanente Sacramento Medical Center. But the bad news came with a silver lining. Betzler was referred to Kellogg for genetic counseling and began receiving annual colonoscopies to check her colon and rectum for any signs of cancer.

In addition, she receives an endoscopy every 2 years to check for cancer in her stomach and esophagus. Women with Lynch syndrome may also need regular screenings for reproductive system cancers, but because Betzler had a hysterectomy 10 years ago, she does not.

Understanding hereditary cancer

One out of 3 Americans will get cancer at some point in their lives. Most cancers develop at random, but some people are born with a hereditary condition, passed down from a parent, that increases their risk.

People with Lynch syndrome have up to a 70% risk of developing colorectal cancer, for example, and women with Lynch syndrome have up to a 60% risk of uterine cancer. That’s compared to a risk of less than 5% for those 2 cancers in the general population.

Signs that a person may have Lynch syndrome include:

  • Having colorectal cancer before the age of 55 or uterine cancer before menopause
  • Having 2 or more colorectal or other Lynch-related cancers
  • Having multiple relatives on one side of your family with colorectal or uterine cancers
  • Having a relative with Lynch syndrome

In Betzler’s case, her younger sister was found to have Lynch syndrome after being diagnosed with colon cancer. “We tested Karen for the same gene mutation that her sister has, and the results were positive,” said Kellogg.

A better care experience

Once Betzler recovered from her shock, she found she appreciated receiving care within Kaiser Permanente’s connected system.

“There was no delay in having any of the testing done. Whether it was the blood test or a colonoscopy, everything happens right here,” Betzler said. “My sister [who is not a Kaiser Permanente member] had to go to all these different places.”

She added, “All 5 of us who belong to Kaiser Permanente had the option of using telehealth for our genetic counseling. I really liked that because I didn’t have to take extra time out of my day to go to an appointment.”

Kellogg credits Kaiser Permanente’s team-based approach with ensuring thorough evaluation of patients for hereditary cancer syndromes. Review boards of cancer specialists meet regularly to discuss cases and often include genetic counselors like herself.

“Based on the patient’s family history or the pathology report, we’re able to make recommendations about which cases should be referred to Genetics,” Kellogg said.

If you think you may have an inherited predisposition for cancer, be sure to tell your doctor.

“Having that information allows you to be more proactive with your health care,” said Kellogg. “You can take concrete steps to manage your risk.”

Learn more about cancer care at Kaiser Permanente.