WEDNESDAY, Jan. 11 (HealthDay News) — The first major gene
mutation associated with an increased risk for hereditary prostate cancer
has been identified by scientists.
Men who inherit the mutation in the HOXB13 gene have a 10 to 20 times
increased risk of developing prostate cancer, according to the study in
the Jan. 12 issue of the New England Journal of Medicine.
The HOXB13 gene plays an important role in the development of the
prostate during the fetal stage and in prostate function later in
life.
The discovery of this gene mutation may help improve understanding
about the development of prostate cancer and which men may require early
screening for the disease, according to the team led by investigators at
the Johns Hopkins University School of Medicine and the University of
Michigan Health System.
The researchers analyzed DNA from the youngest prostate cancer patients
in 94 families that had multiple cases of the disease among close
relatives, such as fathers, sons and brothers. Members of four different
families were found to have the same mutation in the HOXB13 gene. All 18
patients in those four families had the mutation.
The investigators then looked at 5,100 men who had been treated for
prostate cancer and found that 1.4 percent (72) of them had the same
HOXB13 gene mutation. The men with the mutation were much more likely to
have at least one first-degree male relative (father or brother) who also
had been diagnosed with prostate cancer.
When they looked at a control group of 1,400 men without prostate
cancer, the study authors found that only one of the men had the
mutation.
The researchers also looked at data from men enrolled in studies of
early-onset or familial prostate cancer.
“We found that the mutation was significantly more common in men with a
family history and early diagnosis compared with men diagnosed later,
after age 55, without a family history. The difference was 3.1 percent
versus 0.62 percent,” Dr. Kathleen Cooney, a professor of internal
medicine and urology at the University of Michigan Medical School, and one
of the study’s two senior authors, said in a Hopkins news release.
“It’s what we’ve been looking for over the past 20 years,” added fellow
senior author William Isaacs, a professor of urology and oncology at the
Johns Hopkins University School of Medicine. “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.”
An estimated 240,000 men in the United States will be diagnosed with
prostate cancer this year. While the HOXB13 gene mutation may account for
only a small number of prostate cancer cases, it may provide clues about
how this cancer develops and help to identify a group of men who might
benefit from early or additional prostate cancer screening, the
researchers said.
More information
The American Cancer Society has more about prostate cancer.
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