By Laura Prus, Staff Writer
Kate Saunders noticed several years ago that when it came to her family, a history repeated itself. A history of cancer, that is. Multiple family members had been diagnosed with cancer, several at a young age.
After extensive research, Saunders discovered that her family's cancer history was a result of Lynch syndrome, an inherited tendency to develop colorectal, endometrial and other cancers.
Learning about Lynch syndrome
Saunders recognized something was unusual when she was 13 years old and her mother was diagnosed with ovarian and endometrial cancers.
After college graduation, Saunders began a career in research. During her 10 years working in the Department of Epidemiology at M. D. Anderson, she finally learned what triggered her family's history of cancer.
"I was sitting in a presentation in the Department of Epidemiology at M. D. Anderson and saw a family presented," she says. "It was a Lynch syndrome family, and it looked a lot like mine."
Although shaken, Saunders remained after the presentation to clarify her uncertainty. She left the presentation on a mission to discover whether or not Lynch syndrome ran in her family.
Putting the pieces together
"I started putting together my family's history and tracking down relatives, some of whom I had never met and didn't really know anything about," Saunders says.
It took a while for her to uncover the necessary information. She grilled her grandmother for names of relatives. Saunders also received help from family members who knew of her search.
When a close family member was diagnosed with colon cancer and Saunders was diagnosed with melanoma, she intensified her quest for information.
"I went after my family history more aggressively," Saunders says. "I began to pull death certificates, and it started to come together."
Final test is taken
The last step led Saunders to a genetic counselor. Having worked in family studies, she knew what was needed for the process. "I was unique in that I could provide a well-developed pedigree," Saunders says.
When she constructed her family tree, she recognized that it was a classic depiction of Lynch syndrome. The genetic counselor concurred.
"Although there was no tumor to genotype, it was pretty classic," Saunders says. "My family has one of the more common, but profound, HNPCC mutations."
Questions are answered
The answer was clear. Lynch syndrome, also called hereditary nonpolyposis colorectal cancer syndrome (HNPCC), runs in Saunders' family. This creates a great deal of risk.
The affected gene, which helps prevent colon and endometrial cancers, does not function properly for people with Lynch syndrome. Therefore, Saunders and other affected family members have a 60% to 80% chance of developing colorectal cancer, especially under the age of 50. Female relatives also incur a 40% to 60% lifetime risk of developing endometrial cancer, and both male and female relatives have an increased risk of developing a second primary cancer.
Precautions are crucial
To combat these high percentages, Saunders takes great preventive measures. "I go for fairly aggressive screening," she says. "My family has a lot of different cancers."
Her screening regimen includes an annual colonoscopy, endometrial screening and transvaginal ultrasound to evaluate the ovaries. As a melanoma survivor, she also gets skin exams and is cautious about her sun exposure. "I'm very careful and aware of things that change," Saunders says.
At 41 years old, she also is thinking about larger prevention measures in the future, including a possible hysterectomy.
Breaking the news
To ensure that affected family members begin to take the same precautions as Saunders, she informed them of her findings. "They all know about our 'cancer thing,'" she says. "They just have to come to accept that we, as a family, 'get cancer.' I have tried to explain it and I've encouraged folks to see the genetics services in their local areas, but you can't force people. They have to come to it on their own."
Now, with their knowledge of Lynch syndrome, Saunders and her family are better informed about the precautions they must take to prevent cancer.
Q&A: Lynch syndrome
M. D. Anderson resources:
Clinical Cancer Genetics
NIH Genetics Home Reference - Lynch Syndrome
Lynch Syndrome Diagnosis Leads to Prevention
By Laura Prus, Staff Writer
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