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Questionnaire identifies women at risk
of inherited breast or ovarian cancer
Protocol could determine need for
additional screening, preventive treatment
BOSTON - September 26, 2005 - A simplified way for patients
to report and update their family medical histories could help identify
women who have inherited genetic mutations that increase their risk
for breast or ovarian cancer. In the November issue of the journal
Cancer, researchers from the Massachusetts
General Hospital (MGH) Cancer Center report how a questionnaire
completed by women coming to the center for mammograms can 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."
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 researchers note that women diagnosed with the cancer-associated
mutations can pursue a number of options. Preventive approaches
include treatment with tamoxifen or contraceptive drugs and prophylactic
removal of the breasts or ovaries. More frequent screenings with
mammograms and MRI imaging can lead to early diagnosis. And for
those who develop tumors, mutation status can help determine the
best treatment strategies. The team is continuing to administer
the questionnaire to patients at the MGH and will begin doing so
at Newton-Wellesley Hospital, an affiliated institution, in the
near future. They also will investigate methods for informing women
of their mutation status and managing the expected increase in patients
requiring follow-up care.
The study's co-authors are lead author Francisco Dominguez, MD,
along with Julie Jones, MD, Katherina Zabicki, MD, Barbara Smith,
MD, PhD, Michele Gadd, MD, Michele Specht, MD, and James Michaelson,
PhD, of MGH Surgical Oncology; and Daniel Kopans, MD and Richard
Moore of MGH Breast Imaging.
Massachusetts General Hospital, established in 1811, is the original
and largest teaching hospital of Harvard Medical School. The MGH
conducts the largest hospital-based research program in the United
States, with an annual research budget of more than $450 million
and major research centers in AIDS, cardiovascular research, cancer,
cutaneous biology, medical imaging, neurodegenerative disorders,
transplantation biology and photomedicine. In 1994, MGH and Brigham
and Women's Hospital joined to form Partners HealthCare System,
an integrated health care delivery system comprising the two academic
medical centers, specialty and community hospitals, a network of
physician groups, and nonacute and home health services.
Media Contact: Sue
McGreevey, MGH Public Affairs
Physician Referral Service: 1-800-388-4644
Information about Clinical Trials
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