Jolie’s Double Mastectomy brings BRCA into the Spotlight

A 956-word essay by a Hollywood actress has increased awareness of breast cancer genetic syndromes on par with the work of large organizations like the American Cancer Society and Susan G. Komen for the Cure.

In a widely read New York Times op-ed, the 37-year-old Angelina Jolie shared with the world that she underwent bilateral prophylactic mastectomies in February followed by reconstructive surgery in April. The piece was published the day after Mother’s Day, which was perhaps not a coincidence. The reason for the preventive operation was Jolie losing her own mother to ovarian cancer at age 56 after having been diagnosed with breast cancer previously.

In order to assess her own risk of developing breast cancer Jolie underwent genetic testing, revealing that she carries the BRCA1 gene. Inherited in an autosomal dominant pattern, BRCA1 drastically increases the likelihood of being diagnosed with either breast and/or ovarian cancers. Jolie’s doctors estimated her personal risk of breast cancer at 87%. Post-mastectomy, her risk is 5%.

As is the case with most cancers, the risk of breast cancer increases with age and with a positive family history. Approximately 10% of women will develop breast cancer during their lifetimes. Other risk factors include:

Early menarche

Late menopause

Nulliparity

Late age at first pregnancy

Use of estrogen-replacement therapy

Obesity

An easy way to recall these risk factors is that they all lead to a high estrogen state within the patient. Keep in mind that three in every four women diagnosed with breast cancer lack any risk factors.

Although Jolie herself acknowledged that “only a fraction of breast cancers result from an inherited gene mutation,” her decision to undergo the genetic test may lead to a rush of women asking their physicians to test them.

Only women with any of the following family history are recommended to undergo genetic testing according to the National Cancer Institute:

1 first-degree relative with bilateral breast cancer
2 first-degree (mother or sister) relatives with breast cancer, with at least one being diagnosed before age 51
3 or more first- or second-degree (grandmother or aunt) relatives with breast cancer
A combination of first- and second- degree relatives diagnosed with breast and ovarian cancer (at least one cancer type per relative) [In addition to Jolie’s mother being diagnosed with both types, her maternal grandmother suffered from ovarian cancer, according to the Associated Press.]
A male relative with breast cancer

Women of Ashkenazi Jewish descent are at an inherently higher risk of carrying the mutation and thus the threshold for testing is lower (e.g. only one first-degree relative with breast cancer is sufficient for testing).

As Jolie correctly wrote, the chances of breast cancer in BRCA1 are higher than ovarian cancer, which was part of the reason she had the mastectomies performed. However, there is a chance that she will have her ovaries surgically removed as well to reduce the risk of ovarian cancer, which currently stands at 50%. Women with BRCA1 are offered oopherectomy around age 40 or when they are done having children.