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News » Filed under: Prostate Cancer

Gene Mutation Linked to Hereditary Prostate Cancer

Article date: January 20, 2012

By Stacy Simon

Researchers studying why prostate cancer runs in families have found a genetic mutation that may begin to answer that question. The mutation is rare, affecting only a small percentage of prostate cancer cases. But the research shows that men who are born with this mutation are as much as 20 times more likely to develop prostate cancer. The discovery may one day help identify men who may benefit from earlier or additional screening.

A genetic mutation is a change in the DNA of a cell. Most mutations do not cause cancer, and a few may even be helpful. But all types of cancer are thought to be due to mutations from damage to a cell's DNA.

The research team from Johns Hopkins University studied more than 200 genes in 94 men with prostate cancer. They chose men who were diagnosed when they were 55 years old or younger or who had relatives with prostate cancer. In 4 of the men, they found the same mutation in a gene named HOXB13 that plays an important role in the development of the prostate. Researchers then tested families of these 4 men, and found the same mutation in all 18 close relatives who had prostate cancer.

Researchers then analyzed the records of 5,100 men who had been treated for prostate cancer and found that 72 of them had the same gene mutation. Those with the mutation were more likely to have a relative with prostate cancer or be diagnosed at a young age. In a control group of 1,400 men without prostate cancer, only 1 had the mutation.

The mutation was found in white families. Two other mutations on the HOXB13 gene were found in African-American families. However, only 7 of the 94 families in the study were African-American, so more research needs to be done to understand the significance of those mutations. Prostate cancer occurs more often in African-American men than in men of other races and at younger ages. African-American men are also more likely to be diagnosed at an advanced stage, when it is harder to treat.

The study was published in the January 12, 2012 issue of the New England Journal of Medicine.

The researchers say further study may discover additional gene mutations. And it may be possible one day to develop a genetic test for inherited gene mutations that increase prostate cancer risk, much like the genetic tests that are available to look for BRCA1 and BRCA2 mutations that increase a woman’s risk for breast and ovarian cancer.

Read more about risk factors and how they affect the chances of getting prostate cancer.

Reviewed by: Members of the ACS Medical Content Staff

ACS News Center stories are provided as a source of cancer-related news and are not intended to be used as press releases. For reprint requests, please contact permissionrequest@cancer.org.

Citation: Germline Mutations in HOXB13 and Prostate-Cancer Risk. Published in the January 12, 2012 issue of the New England Journal of Medicine (Vol. 366, No. 2). First author: Charles M. Ewing, M.S., Johns Hopkins University.

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