January 18, 2015 | by Cary Presant
One of American’s great sportscasters, Stuart Scott, passed away from recurrent cancer of the appendix at the young age of 49. His cancer was diagnosed when he was only 40 years old. It was found during an operation for appendicitis. His courageous fight against this disease began in 2007, resumed again with an operation for recurrent cancer in 2011, and yet again in 2013 when the cancer returned. Despite surgery, a long period of surgical healing, and then prolonged courses of different kinds of chemotherapy, he died on Jan. 4, 2015.
Scott went public with his struggle against the disease, and urged people to follow his example to fight cancer with both chemotherapy and an aggressive exercise program to keep his body strong. Because so many of my patients suffer from fatigue associated with treatments, I am sure his fitness program improved his quality of life.
But more important for all of us, we should realize that the occurrence of cancer at a young age (40 in Scott’s case) should raise a red flag to patients, families and physicians. Hereditary cancer syndromes due to mutations in our genes are the cause of 5 to 10 percent of cancers. And when we are reminded of this by the death of one of our celebrities at a young age, we should each examine our own family history and get tested for gene abnormalities.
When should we be asking for a discussion about gene testing? Family cancer syndromes are likely to be present when there are multiple family members with cancer, or when an individual patient has more than one cancer, or when a cancer occurs at a young age (less than 50). While we do not know if Scott was tested (that’s private health information), having cancer at age 40 warrants discussing gene testing with a physician.
Why should someone get testing when a positive test for a gene mutation could cause anxiety and worry? Fortunately, most of the cancers in genetic family syndromes are preventable or can be found early by enhanced screening programs so they're more likely to be permanently cured.
In Scott’s case, the occurrence of appendix cancer under age 50 suggests that perhaps he was suffering from Lynch syndrome (also called HNPCC, for hereditary nonpolyposis colon cancer). Originally described in 1966 by Henry T. Lynch, M.D., this common familial cancer syndrome causes many different types of cancer. The most frequent are colon cancer or rectal cancer (these cancers occur in 85 percent of patients who have the gene mutation) or uterine cancer (this cancer occurs in 65 percent of women with the mutation). Up to 8 percent of colon cancers are due to Lynch gene mutations. Other cancers associated with the gene mutation include tumors of the stomach, pancreas, kidney, ureter, gall bladder, bile duct, esophagus, brain, small intestine, prostate and even breast.
Five different genes can cause this array of cancers in Lynch syndrome. They can be easily found by a simple blood test or even a mouth swab. Since this gene is inherited as an autosomal dominant, this means that 50 percent of children of a patient with Lynch syndrome will have an increased risk of getting cancer.
So here are Dr. Cary’s tips for you, knowing what happened to Stuart Scott.
Of course we can’t select our parents. But we can understand what genes they have passed down to us so we can lead longer, healthier and happier lives. Stuart Scott, we will miss you, but we will honor your courageous struggle by paying attention to our family history and getting gene testing when appropriate.
Cary A. Presant, M.D., is an assistant clinical professor in City of Hope’s Department of Medical Oncology & Therapeutics Research and Hematology & Hematopoietic Cell Transplantation in City of Hope's West Covina clinic.
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