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Women Need Fast Family History Review to ID Breast,
Ovarian Cancer Risk
Automated system easier way of gathering this
critical data
Sept. 26, 2005 A new study of 14,000 women adds
stronger evidence that there is a need to identify women with a family
history of breast and ovarian cancers and consider them at high risk.
One out of five of these women with a genetic family link to these
cancers were found to have a ten percent or greater risk of developing
the cancer.
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Examination by cancer location showed that 100
percent of women with bilateral breast cancer, 35 percent of women with
ovarian cancer, and 18.9 percent of women with unilateral breast cancer
had a 10 percent or greater risk of cancer causing mutations.
A thorough family history may be the most effective
measure for cancer risk.
In the November issue of the journal Cancer,
researchers led by Francisco J. Dominguez, M.D. and Kevin S. Hughes,
M.D. of the Massachusetts General Hospital (MGH) Cancer Center report
how a questionnaire completed by women coming to the center for
mammograms was used detect those at increased risk, which could signal
the need for further screening and preventive therapies and allow
earlier diagnosis. The study is receiving early online release.
"In order to identify patients at high risk,
physicians must take thorough family histories and then accurately
interpret that information, something that can be difficult since many
nuances can determine risk," says Kevin Hughes, MD, of the MGH Surgical
Oncology Division, the study's senior author. "In addition, family
history can change over time if a patient's relatives develop cancer. We
need an easier way to both update data and reevaluate each patient's
situation."
Previous research has shown that about 20 percent
of women who develop breast or ovarian cancer have family histories that
suggest they may have inherited a mutation that would put them at
elevated risk.
In comparison, the family histories of only 3 to 6
percent of women who had not developed those cancers indicate elevated
risk. The current study was designed to further investigate the extent
to which women with these mutations are not being identified and to
evaluate a less labor-intensive method of collecting and analyzing
family history information.
During the eight-month study period, about 14,000
women who came to the Avon Breast Evaluation Center at MGH completed a
questionnaire on their family history of breast or ovarian cancer,
whether they had developed any tumors and related factors.
The information was gathered either with written
questionnaires scanned into a computer or on handheld tablet computers.
It was downloaded into a database that was immediately available to the
patients' physicians and was later analyzed with a protocol designed to
evaluate the risk that the patients carried mutations in BRCA1 or BRCA2,
the so-called "breast-cancer genes."
The data was analyzed according to a risk
assessment protocol, the Myriad Mutation Prevalence Tables, to identify
women with a 10 percent or greater risk of having mutations.
Among the 1,764 participants who had been diagnosed
with breast or ovarian cancer, 20.6 percent had family histories
indicating elevated risk of one of the tumor-associated mutations. Risk
levels were even higher among participants who'd had ovarian cancer and
those of Ashkenazi Jewish ancestry, a group known to have higher
incidence of the mutations.
The earlier study that found similar risk levels
used a more complicated risk-assessment procedure conducted by a genetic
counselor, a resource not available in many centers.
"We wanted to show we could identify these
high-risk women with an automated system that provides accurate
information without requiring more work for our staff, an approach that
has been tried in very few centers worldwide," says Hughes. "In addition
to verifying the utility of this strategy, these results remind us how
many women who should be tested for these genetic mutations are not
being screened." Hughes is an assistant professor of Surgery at Harvard
Medical School.
The Myriad Tables effectively assess risk for BRCA1
and BRCA2 mutations in women using a thorough family history. "We have
developed," conclude the authors, "a simple, fast and effective method
of detecting a large number of patients at high risk for hereditary
breast/ovarian cancer syndrome in a mammography population."
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