Genetic testing offers insight into mutations that can cause breast cancer
Posted: October 1, 2013 at 3:40 am
Actress Angelina Jolies public disclosure that she underwent a preventive double mastectomy has raised public awareness about genetics, an area of medicine that is exploding, said Dr. Beth Herrick, a radiation oncologist and medical director of the South-coast Center for Cancer Care in Fall River. Genetic testing determined Jolie had the BRCA 1 gene mutation, causing Jolie to decide to have her breasts and ovaries removed.
I was happy to see her come out so graciously about it because it obviously drew attention to a very important critical issue. I think its an area of medicine exploding in terms of our understanding of genetics not just cancer, but the role genetics play in our lives, she said.
But the test Jolie underwent to determine the BRCA 1 and BRCA 2 gene mutations is not for everyone, said Herrick, who has been doing genetic testing and counseling with her patients for a long time.
I dont test all of my breast cancer patients. Only five to six percent of all women with breast cancer have an inherited BRCA 1 or 2 mutation, said Herrick. So its pretty rare.
Everyone has the genes, she said, but if a patient is born with a mutation in either one of those genes it puts her at much higher risk of developing breast or ovarian cancer.
The hallmark of this syndrome is a younger patient (usually in the late 30s or 40s), with a cancer diagnosis, said Herrick, who, as a radiation oncologist, primarily sees patients who already have a cancer diagnosis.
With what she described as a sporadic breast cancer, the risk goes up with age. Women over age 55 are more likely to develop breast cancer that is unrelated to the BRCA 1 or 2 gene mutations.
Though Jolie didnt have breast or ovarian cancer, Herrick said Jolies family history (a mother who died fairly young from ovarian cancer) made her a candidate for the BRCA 1 or 2 test.
Herrick said its unusual for a radiation oncologist to be trained in genetic testing and counseling, which is usually done by a medical oncologist, but she became interested in that area of medicine, in part because it fascinated her, but also because she was treating so many young patients with breast cancer.
Ive been doing genetic counseling and testing for a long time. During the time I was doing my residency in the mid-1990s, the BRCA gene was discovered, she said.
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Genetic testing offers insight into mutations that can cause breast cancer
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