What Angelina Jolie's Story Can Help Us Understand About BRCA Gene Changes and Prevention

What she wrote, and what she did not

On May 14, 2013, Angelina Jolie published an op-ed in the New York Times titled "My Medical Choice." CNN reported it the same day.

She wrote that she carries a mutation in the BRCA1 gene, and that she had chosen a preventive double mastectomy. She was 37.

Two sentences from that piece are the whole story. "My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman." And: "Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could."

CNN reported that she finished three months of medical procedures on April 27, and that her mother, Marcheline Bertrand, died of ovarian cancer in 2007 at 56.

This is a prevention story. She did not have cancer.

What BRCA1 and BRCA2 actually do

They are repair genes. NCI describes them as producing proteins that help fix damaged DNA.

Everyone has two copies of each, one from each parent. A harmful change in one copy means the repair work is done less well, and cells accumulate damage faster.

That is why inheriting one raises risk across a lifetime rather than causing cancer at a moment. It is a slow tilt, not a switch.

The real numbers

NCI publishes them, and they are worth reading side by side with the general population figures.

Breast cancer. More than 60 percent of women who inherit a harmful BRCA1 or BRCA2 change will develop breast cancer in their lifetime. About 13 percent of women in the general population will.

Ovarian cancer. About 39 to 58 percent of women with a harmful BRCA1 change, and 13 to 29 percent with a harmful BRCA2 change, will develop ovarian cancer, which NCI counts as including fallopian tube and primary peritoneal cancer. In the general population it is about 1.1 percent.

Second breast cancers. Among women already diagnosed with breast cancer, about 30 to 40 percent of those with an inherited BRCA1 change and 25 percent with a BRCA2 change will develop cancer in the other breast within 20 years. In the general population it is about 8 percent.

Men. About 0.2 to 1.2 percent of men with a harmful BRCA1 change, and 1.8 to 7.1 percent with a BRCA2 change, will develop breast cancer by age 70, against about 0.1 percent of men generally. Men with a harmful change should also discuss prostate cancer screening.

Note the ranges. Jolie's 87 percent was her doctors' estimate for her, given her family history. It is not the number for everyone with a BRCA1 change.

How rare is it

NCI puts the prevalence of harmful BRCA changes in the general population at about 0.2 to 0.3 percent, or roughly 1 in 400.

Some groups carry founder mutations at higher rates. About 2 percent of people of Ashkenazi Jewish descent carry one, usually one of three specific changes. NCI also names Norwegian, Dutch, Icelandic, Hispanic, West African, African American, Sephardi Jewish and Bahamian populations as having founder mutations.

What the options are

NCI lists three routes for someone who has inherited a harmful change.

Enhanced screening. Professional groups generally advise starting breast screening younger and adding MRI to mammography. NCI is blunt that no effective ovarian cancer screening method is known. Transvaginal ultrasound and the CA-125 blood test were once used, but neither finds ovarian tumors early enough to improve long-term survival.

Risk-reducing surgery. Removing both breasts lowers breast cancer risk. Removing the ovaries and fallopian tubes lowers ovarian cancer risk and possibly breast cancer risk too. NCI notes ovarian cancers often start in the fallopian tubes, which is why they come out together. Removing only the tubes, keeping the ovaries until menopause, is being studied for people not ready for the full operation.

Medication to reduce risk.

NCI states plainly that these surgeries are irreversible and each has potential harms, including bleeding, infection, effects on body image, and early menopause in premenopausal women.

Our pages on BRCA gene mutations and preventive mastectomy cover both sides of that decision.

When to get checked

The question here is not when to be screened for cancer. It is when genetic counseling is worth a conversation.

NCI's position is that testing should focus on people more likely to carry a harmful change. In practice that points to:

• A close blood relative already known to carry a harmful BRCA change.
• Breast cancer diagnosed in the family before age 50.
• Ovarian, fallopian tube or primary peritoneal cancer in the family at any age.
• Breast cancer in a male relative.
• More than one cancer in the same person, or breast cancer in both breasts.
• Ashkenazi Jewish ancestry with any family history of breast or ovarian cancer.

A genetic counselor is the right first stop, not the test. Our page on genetic counseling explains what that appointment involves, including what an uncertain result would mean.

What this does not mean

A harmful BRCA change is not a diagnosis. NCI says a positive result cannot tell whether or when a person will develop cancer, and some carriers never do.

It does not mean surgery. Enhanced screening is a real option, and NCI is explicit that a positive result does not require an operation.

It does not mean one number applies to everyone. Jolie's 87 percent came from her own history. Yours would be your own.

And a negative result in a family with a known harmful change means something quite different from a negative result in a family with no testing done at all. That distinction is exactly what a counselor is for.

One thing does travel from her essay without any caveat: results matter to blood relatives too. Telling them is part of the decision.

Sources

• CNN, Angelina Jolie announces preventive double mastectomy after BRCA1 result — https://www.cnn.com/2013/05/14/showbiz/angelina-jolie-double-mastectomy/index.html
• NCI, BRCA Gene Changes: Cancer Risk and Genetic Testing — https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
• SEER Cancer Stat Facts, Ovarian Cancer — https://seer.cancer.gov/statfacts/html/ovary.html
• SEER Cancer Stat Facts, Female Breast Cancer — https://seer.cancer.gov/statfacts/html/breast.html

How this article was prepared

An AI-assisted editorial system helped prepare this page. No named medical reviewer has reviewed it unless one is listed.

The National Cancer Information Foundation publishes Cancer Explained. This page is for learning. It is not medical advice and does not suggest a test or treatment.

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