In 2001, Mount Sinai researchers published a study in Science that showed that a gene, known as KLF6, fails to function properly in at least 50 to 60 percent of all prostate cancers. This was the first single gene shown to be responsible for the majority of cases of this disease, which affects approximately 200,000 men each year.
This finding led to the question as to whether or not mutations in this gene that are present from birth might increase an individuals susceptibility to prostate cancer. John Martignetti, MD, PhD, Assistant Professor of Human Genetics at Mount Sinai and colleagues addressed this question by analyzing differences in the KLF6 gene in 3,411 blood samples from men in registries of three major cancer centers (Johns Hopkins University, the Mayo Clinic and Fred Hutchinson Cancer Research Center). Blood samples were divided into three groups based on the individuals from which they were taken those with prostate cancer who had a family history of prostate cancer, those with prostate cancer and no family history of the disease, and those without prostate cancer.
About 17% of the patients with a family history of the disease and 15% of patients with no such history carried at lease one copy a single KLF6 variant, but only 11% of the controls had a copy. The significant difference in prevalence of the variant among three groups indicates that individuals with this particular gene variant face an approximately 50% increased risk for developing prostate cancer.
In the 2001 study, Dr. Martignetti, Scott Friedman, MD, Fishberg Professor of Medicine and Chief of the Division of Liver Diseases, and Goutham Narla, an MD/PhD student at Mount Sinai discovered that KLF6, functions as a tumor suppressor gene. Its role is to restrict ce
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