CHICAGO - A deadly gene's path can hide in a family tree when a woman has few
aunts and older sisters, making it appear that her breast cancer struck out of
nowhere when it really came from Dad.
A doctor examines a breast x-ray in an undated file photo. A
genetic mutation that raises the risk of breast cancer is found in up to
60 percent of US women, making it the first truly common breast cancer
susceptibility gene, researchers reported on Sunday. [Reuters]
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A new study suggests thousands of
young women with breast cancer - an estimated 8,000 a year in the US - aren't
offered testing to identify faulty genes and clarify their medical decisions.
Guidelines used by insurance companies to decide coverage for genetic testing
should change to reflect the findings, said study co-author Dr. Jeffrey Weitzel
of City of Hope Cancer Center in Duarte, Calif. Testing can cost more than
$3,000.
"Interestingly, it's about Dad," Weitzel said. Half of genetic breast cancers
are inherited from a woman's father, not her mother. But unless Dad has female
relatives with breast cancer, the faulty gene may have been passed down
silently, without causing cancer. (Men can get genetic breast cancer, too, but
it's not common.)
Weitzel said doctors often overlook the genetic risk from the father's side
of the family.
The study, appearing in Wednesday's Journal of the American Medical
Association, looked at the genetic test results from 306 women diagnosed with
breast cancer before age 50.
None of the cancer patients in the study had a family history of breast or
ovarian cancer.
Among the women with plenty of female relatives, about 5 percent had BRCA
gene mutations. But among those with few sisters and aunts older than 45 (when
breast cancer would be likely to appear), almost 14 percent had mutations of the
genes BRCA1 or BRCA2. That suggests that these cancer patients were unaware of
their genetic mutations because there were so few women in the family to signal
a cancer risk.
The researchers defined few female relatives as fewer than two on either the
father's or mother's side of the family.
Women who were adopted and don't know their family medical history should be
aware of the findings, Weitzel said. Women whose female relatives died young
before breast cancer had time to show up also are affected.
When such a woman gets breast cancer before age 50, she should get a genetic
test, said Dr. Noah Kauff, a cancer geneticist at Memorial Sloan-Kettering
Cancer Center in New York. That would help her decide whether to have the
unaffected breast or her ovaries removed to prevent more cancer. Kauff was not
involved in the research, but wrote an accompanying editorial.
"The study allows physicians and patients to make an argument to insurance
carriers that, although there's not a family history of breast cancer, it's
still reasonable to test and it should be a covered benefit," Kauff said.
Genetic testing helps a woman choose her next medical steps. A woman with
breast cancer who has a BRCA gene mutation has a four times greater risk of
developing cancer in the other breast and a 10 times greater risk of ovarian
cancer than does a woman with breast cancer who has no BRCA gene mutation.
Some women with a family history of breast cancer choose to have a BRCA
genetic test so they can decide whether to reduce their cancer risk by removing
their ovaries and breasts before any cancer appears. Drug therapy and monitoring
with annual MRI tests offer alternatives.
Testing the genes of more women would cost more money, but Weitzel said that
won't add significantly to health care costs and will prevent cancer in some of
the women.
The study also showed that three commonly used
predictive models don't accurately estimate the genetic breast cancer risk for
women without a family history of cancer. The American Cancer Society recently
based its recommendation for annual MRIs on risk assessments from the predictive
models.