But she candidly explained that she opted for a preventive double mastectomy to reassure her six children that she would "do anything to be with them as long as I can." She described her partner, Brad Pitt, as "loving and supportive."
Doctors said the disclosure sets a great example. BRCA1/2 mutations are found in up to 10 percent of breast cancers and up to 15 percent of ovarian cancers.
"I thought how helpful this is going to be to women across the country - and the world - who are facing these decisions," said Generosa Grana, an oncologist and genetic risk specialist at Cooper University Hospital in Camden. "Not that they'll take her path, but they'll look at their family history, consider genetic testing, and then be proactive."
Unfortunately, experts say, the best way to be proactive remains dreadful: Remove healthy organs.
"I worry that people will think this problem is solved - that if you just get rid or your breasts and ovaries, you'll be fine," said oncologist Susan Domchek, director of the Basser Research Center for BRCA at the University of Pennsylvania. "This is not an easy thing to go through."
No options are easy for people with mutations that knock out the normal cancer-suppressing function of BRCA1 or BRCA2. In the nearly two decades since the faulty genes were discovered, they have been linked to increased risks of cervical, pancreatic, colon, prostate, melanoma, and other cancers.
Certain hormonal drugs can modestly reduce the chance of breast and ovarian cancer, and increased surveillance with mammograms and other tests may - or may not - catch a malignancy early.
Weighing the uncertainties, Robyn Lawrysh-Plunkett, 56, of Deptford, Gloucester County, had her ovaries out at age 45, shortly after her BRCA1 mutation was found, even though it put her into menopause prematurely.
She had her breasts removed last year.
"It wasn't if I was going to get breast cancer; it was when," Lawrysh-Plunkett said. "It was very stressful."
In the United States, 20 percent of BRCA1/2 mutation carriers opt for preventive double mastectomy, a recent study found. In Pennsylvania, the number of women having preventive mastectomy rose from 94 in 2002 to 455 in 2011, according to the Pennsylvania Health Care Cost Containment Council. The recent figure included more than 200 women in Southeastern Pennsylvania.
Jolie said her mastectomies were expected to reduce her chance of getting breast cancer from 87 percent to less than 5 percent.
But she went through three months of medical procedures, ending April 27, that included breast implants and preservation of her nipples. Saving the nipples, a fairly recent advance, remains controversial.
"For a BRCA carrier, I don't recommend it" because the nipples contain cells susceptible to cancer, said Lisa K. Jablon, a breast surgeon at Einstein Medical Center in Philadelphia.
Although scientists do not yet have a good way to target BRCA1/2 mutations with drugs, they are getting closer. Domchek's research shows that olaparib, an experimental drug that blocks an enzyme used to repair DNA, can make BRCA-driven cancer cells self-destruct. Basically, the cell becomes like a three-legged stool that has lost two legs.
"It's not the magic solution," Domchek said. "But it's a compelling example of how, if you know the biology of the cancer, you can use it."
Contact Marie McCullough
at 215-854-2720 or email@example.com.