Results from the first collaborative study conducted by researchers from the University of California at San Francisco (UCSF) and the Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH), show that it may be possible for men with an increased, genetically inherited risk for prostate cancer (PC) to be routinely identified with a simple blood or urine test leading to an earlier diagnosis when the disease is potentially easier to treat.  The study, entitled, “A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences,” was published in the latest edition of the journal Cancer Discovery.

Background Terminology:

• DNA sequence: A nucleic acid sequence is a succession of letters that indicate the order of nucleotides within DNA.

• Gene: A gene is a region of DNA that controls a discrete, hereditary trait in an organism and it consists of DNA stretches whose sequence codes for proteins that perform the necessary cellular functions in an organism.

• Genome: is an organism’s complete set of DNA, including all of its genes, containing all of the information needed to build and maintain that organism.

• Biomarkers: short for biological markers, are the measures used to perform a clinical assessment- examples include blood pressure or cholesterol level, that are used to monitor and predict patient’s health status

With the aim to find a genetic biomarker that may indicate the presence of PC in patients in its earliest stages, investigators undertook the largest genetic study ever conducted and analyzed genetic samples and health records of approximately 100,000 volunteers assessing the genetic, health and environmental factors that may contribute to disease diagnoses, such as PC.

What they found was that men with combinations of certain DNA variations in the sequence were in the highest 10 percent risk group and were more than 6 times as likely to be diagnosed with PC when compared to men who ranked among the lowest 10 percent for PC risk.

In a University press release, Dr. John Witte, PhD, a UCSF professor of epidemiology/biostatistics and urology UCSF and lead study author stated, “We developed a risk model that may have clinical value. We also showed that there remain substantial undiscovered genetic risk factors for prostate cancer.”

Dr. Witte’s colleague and senior author on the study, Dr. Van Den Eeden, PhD, Division of Research at Kaiser Permanente, added, “Now we are focusing on men with prostate cancer in this cohort who relapse despite treatment, and on those initially diagnosed with the most advanced disease, with the hope of identifying inherited combinations of genetic variations associated with the most aggressive, life-threatening cancers.