April 1, 2024

Lynch syndrome: Managing the risk of hereditary colon cancer

Lynch syndrome is a gene mutation that increases colon cancer risk. Learn how Kaiser Permanente helped Karen Betzler manage her risk through coordinated care.

Karen Betzler was grateful for the convenience and timeliness of receiving care within Kaiser Permanente’s connected system.

Karen Betzler shares a lot with her brothers and sisters. All 6 have hazel eyes and freckles, and a love of swimming and board games.

Four years ago, she learned that 5 of the 6 siblings have something else in common: an inherited condition called Lynch syndrome.

What is Lynch syndrome?

Lynch syndrome is an inherited disorder caused by changes in certain genes. People with Lynch syndrome are at high risk of developing colorectal cancer, often before the age of 50. They are also at risk of developing other cancers.

“The genes involved in Lynch syndrome are ‘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, then you can accumulate damage, and that damage can lead to cancer.”

Preventive screening

“I was shocked to learn I had Lynch syndrome,” said Betzler, who recently retired from her job as a 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. She also began receiving annual colonoscopies to check her colon and rectum for any signs of cancer. 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 cancers. Betzler does not because she has had a hysterectomy.

Know your risk

Risk factors for Lynch syndrome include having:

  • Colorectal cancer before the age of 55 or uterine cancer before menopause
  • 2 or more colorectal or other Lynch-related cancers
  • More than one relative on one side of the family with colorectal or uterine cancers
  • A relative with Lynch syndrome

In Betzler’s case, her sister had been diagnosed with Lynch syndrome after learning she had colon cancer. “We tested Karen for the same gene mutation, and the results were positive,” Kellogg said.

A better care experience

Betzler appreciated the convenience of receiving care within Kaiser Permanente’s connected system.

“There was no delay in having any of the testing done. Whether it was a blood test or a colonoscopy, everything happens right here,” she said.

The option of using telehealth for some appointments was another timesaver. “I didn’t have to take extra time out of my day to get to the doctor’s office,” she said.

Using knowledge to manage risk

Kellogg credits Kaiser Permanente’s team approach with ensuring the best care for patients like Betzler. Multidisciplinary review boards of cancer specialists meet regularly to discuss complex cases.

“That allows us to make informed decisions,” she 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,” said Kellogg. “You can take concrete steps to manage your risk.”

Learn more about cancer care at Kaiser Permanente.