Larry

When Larry learned he had colon cancer at age 30, the diagnosis came as a shock for the young, active father of two. The only other incidence of cancer he was aware of in his family was his mother’s uterine cancer, which had been successfully treated years earlier.

Now, prompted by his doctor, who noted how unusual colon cancer is in young people and suggested he seek out genetic counseling, Larry began to dig a little deeper into his family history. Conversations with an aunt revealed that his grandfather, who Larry had always been told had died in his thirties from a “stomach problem”, in fact had colon cancer, as had his great-grandmother and two great uncles. Two cousins, he learned, had also recently been diagnosed with cancer—one with uterine cancer and one with colon cancer. Larry was amazed that all of these diagnoses had been kept so quiet all these years.

While undergoing genetic counseling UCSF, Larry shared this new family information and was told that this pattern might be indicative of Lynch Syndrome.  Feeling the need for answers that could help the rest of his family, who might also be at increased risk for cancer, Larry underwent genetic testing. The results revealed that he was positive for a mutation in the MLH1 gene. This gene, he learned was the cause of not only his cancer, but of all those cancers in the family.

Larry’s test results inspired other family members to also undergo testing—comprised of a simple blood or saliva test—to  learn if they, too, had inherited the same genetic mutation. Testing in Larry’s immediate family revealed that one of his sisters and one of his brothers were positive for the gene mutation; the other two were negative.  The information provided powerful incentive for comprehensive preventive care among his family members, Larry says: his siblings, along with his mother, who also had the gene mutation, embarked on a screening protocol, and genetic counselors suggested that Larry’s children undergo gene testing at age 18 to see if they inherited the gene mutation from him.

Larry says of his experience, “knowledge is power,” and he encourages families to discuss medical history openly: “ It  important to know your family history—to learn what illnesses relatives have had. My kids are going to know about all this stuff.”