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Counseling Must Go Hand in Hand With Genetic Testing for Breast Cancer

Counseling Must Go Hand in Hand With Genetic Testing for Breast Cancer

NEW YORK--What should have been good news for a woman whose family
had a history of breast cancer--that she did not carry the breast
cancer gene (BRCA1)--proved bittersweet, since the woman had had
bilateral prophylactic mastectomies 5 years earlier.

"This woman had a hard time deciding whether she wanted to
know her results," said Barbara Weber, MD, associate professor
of medicine and genetics and director, breast cancer program,
University of Pennsylvania School of Medicine, Philadelphia.

The story points out the perils of genetic testing and the need
for women to receive professional counseling about their risk,
as well as prophylactic options if the test is positive, Dr. Weber
said at the American Society of Breast Disease and New York Metropolitan
Breast Cancer Group meeting.

"We tend to use cumulative risk in counseling women,"
she said. "We can tell a woman who carries the BRCA1 mutation
that her risk of getting breast cancer by the time she is 40 is
15%; by age 50, 60%; by age 60, 70%; and by age 80, 85%. . . .
That gives women a much better idea of what their risk actually
is over a certain time period."

Although a woman carrying a BRCA1 mutation has an 87% lifetime
cumulative risk of breast cancer, if she is from a high-risk family
but did not inherit the mutation, her risk is closer to 11%, the
general population risk. "In fact, it may be even lower than
that," Dr. Weber said, "because the 11% risk calculation
includes all women with a family history."

Thus, counseling women from inherited breast cancer families is
difficult, because "either they inherited the mutation, and
their risk is very high, or they didn't, and their risk is very
low," she said. In addition, more than half of the risk in
the women who carry the mutation occurs before the age of 50.

Many of these women mistakenly think that their risk is 50%. "Their
risk of inheriting the mutation that predisposes them to breast
cancer may be 50%, but within these families, virtually nobody's
risk appears to be 50%," Dr. Weber said.


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