Angelina Jolie's Mastectomy: BRCA Testing in the Spotlight

Assessing Risk

Unlike the average woman, who faces a breast cancer risk of about 12%, Jolie's risk before surgery was roughly 7-fold higher.

"My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer," wrote Jolie, whose mother was diagnosed with ovarian cancer at 46 years of age and died a decade later.

But physicians fielding questions and requests for BRCA testing from patients on the basis of a worrying family history "really need to be armed with information," said Dr. Swain.

"Primary care is going to be responsible for a lot of this, and so they're the ones who really need to be educated about what to do and not just be ordering this test on everybody. It's an expensive test, there are a lot of implications. I personally don't order the test — and I know a lot about it — so a primary care physician who really has no education in it should really not be ordering this test. I have a genetic counselor who does a full pedigree to see if they're at increased risk and need to be tested for a BRCA mutation".

"It's not something you want to automatically order," agreed Dr. Madlensky, who says that ideally, patients should be screened in primary care for red flags that might suggest the need for referral to genetic counseling — even before a test is considered.

"There are different types of BRCA testing, and knowing which one to order is a bit complicated, depending on ancestry, cancer diagnosis or not, known BRCA mutation in family or not," she said, adding that a patient's family history should not be taken at face value.

"A lot of times, the story that is in the family is not accurate. Breast cancer reporting is pretty good, but when people report they had a relative with ovarian cancer, often when we try to get those records, we find it was not ovarian but cervical or uterine or something not related to the BRCA genes."

Although there are no standardized criteria for selecting candidates for BRCA counseling, the National Cancer Institute, the National Comprehensive Cancer Network, and the US Preventive Services Task Force outline family history red flags, which generally point to first- and second-degree relatives with breast and/or ovarian cancers, especially at young ages:

• 2 first-degree relatives (mother, daughter, or sister) diagnosed with breast cancer, one of whom was younger than 50 years

• 3 or more first- or second-degree relatives (aunt or grandmother) diagnosed regardless of age

• combination of first- and second-degree relatives diagnosed with breast and ovarian cancer regardless of age

• first-degree relative with bilateral breast cancer

• breast cancer in a male relative

• combination of 2 or more first- or second-degree relatives with ovarian cancer

• For women of Ashkenazi Jewish descent: any first-degree or 2 second-degree relatives on same side of family diagnosed with breast or ovarian cancer

Although Jolie has not publicly discussed the full extent of her family history beyond her mother, sources suggest that other relatives have likely been either diagnosed with similar cancers or have tested positive for the BRCA mutation.

But even if a person's history involves only 1 first-degree relative, BRCA testing "could be" appropriate in some cases, especially if that relative can no longer be tested herself, said Dr. Madlensky. BRCA testing should be viewed as a family undertaking, preferably with the cancer patient central, she added.

"We really ideally want the first test in the family to be on someone who's had a cancer diagnosis. That way, we can figure out whether cancer was result of a BRCA mutation or not. If that test is negative, then there's no need to go and test any of the other family members," she explained. "That's something most people — including physicians — are not aware of," she added.

Sometimes, discussing why a patient should not pursue testing can also be very helpful, commented Jennifer Litton, MD, assistant professor of breast medical oncology, the University of Texas MD Anderson Cancer Center.

"It is important for everyone to realize and to communicate when discussing with patients that a mutation in the BRCA gene only accounts for 5% to 10% of breast cancer, and so for the vast majority of women who get breast cancer, it is not due to a mutation in this gene," she said.

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Cite this: Angelina Jolie's Mastectomy: BRCA Testing in the Spotlight - Medscape - May 16, 2013.