First prostate cancer mutation
January 12, 2012 in NEWS by Suzanne Elvidge
Prostate cancer usually is seen in men over 50, and is slow-growing and often symptom-free. However, the form that runs in families can start earlier, and researchers believe that they might have found the mutation behind this, the first major mutation associated with prostate cancer.
Micrograph showing prostatic acinar adenocarcinoma (the most common form of prostate cancer)
Researchers at the Johns Hopkins University School of Medicine and the University of Michigan Health System, with the Translational Genomics Research Institute (TGen), sequenced more than 200 genes in a human chromosome region known as 17q21-22, from samples from the youngest prostate cancer patients from 94 families with familial prostate cancer. Of the 94 families, all 18 men with prostate cancer in four families had a mutation (G84E) in the HOXB13 gene. This rare mutation increases the risk of developing prostate cancer 10-20-fold. The research was published in NEJM.
“It’s what we’ve been looking for over the past 20 years,” said William B. Isaacs, Ph.D., professor of urology and oncology at the Johns Hopkins University School of Medicine, one of the study’s senior authors. “It’s long been clear that prostate cancer can run in families, but pinpointing the underlying genetic basis has been challenging and previous studies have provided inconsistent results.”
Finding this gene could lead to diagnostics to identify the men with this mutation, who might benefit from early screening or even more aggressive treatment rather than watchful waiting, as well as providing clues behind the biology of all forms the disease.
Ewing, C., Ray, A., Lange, E., Zuhlke, K., Robbins, C., Tembe, W., Wiley, K., Isaacs, S., Johng, D., Wang, Y., Bizon, C., Yan, G., Gielzak, M., Partin, A., Shanmugam, V., Izatt, T., Sinari, S., Craig, D., Zheng, S., Walsh, P., Montie, J., Xu, J., Carpten, J., Isaacs, W., & Cooney, K. (2012). Germline Mutations in HOXB13 and Prostate-Cancer Risk
New England Journal of Medicine, 366 (2), 141-149 DOI: 10.1056/NEJMoa1110000
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