Angelina Jolie’s mastectomy puts cancer genetics in spotlight

July 9, 2013

Did you know that one in three Americans will get a cancer diagnosis in their lifetime? If you want to know what your risk is, talk to a genetic counselor, like the friend I introduced in a recent post, Melody Perpich.

In the world of cancer genetics, breast cancer is among the types that researchers know the most about. There are more genes identified as potential trouble makers for breast cancer than is the case with other cancers, Melody says.

Knowing a patient’s genetic makeup can help reduce risks and guide management of the disease.

This information affords options for those struck by breast cancer, as well as some who have not yet had a diagnosis. Angelina Jolie decided to get a double mastectomy based in part on her family history, according to reports, and her decision brought the issue of cancer genetics to the fore:

Jolie’s family background fits the pattern of what Melody classifies as hereditary family history (see diagram 3) because her grandmother was reported to have ovarian cancer and her mother was diagnosed with breast and ovarian cancer in her 40s. The way Jolie’s family background affected her treatment decision underscores the importance of knowing your family history, Melody says.

Some people have criticized Angelina Jolie for acting prematurely, but Melody says the critics are being too harsh.

There has been an uptrend among at-risk women undergoing prophylactic mastectomies, a procedure that has been a viable option for many years. Long before scientists discovered in the mid-1990s the link between breast cancer and the telltale genes called BRCA1 and BRCA2, there were women who underwent mastectomies of healthy breasts because of a strong family history of the disease.

“Moving forward, we now have these two genes, among others, associated with hereditary breast cancer,” she says. “Having an identified mutation means that you have a more compelling reason to consider the option of prophylactic surgery because your risk is significantly increased.”

“I wouldn’t question Jolie’s decision,” she says. “I think it’s unfair for other people to judge that decision because having this gene mutation places women at a high risk for both breast and ovarian cancer,” she says. “It’s a personal decision.”

Mastectomy does not reduce a woman’s risk of getting ovarian cancer, Melody says. But the reverse is true: removing the ovaries reduces the risk of breast cancer.

However, if a woman who has a BRCA1 or BRCA2 mutation and gets a double mastectomy, she cuts her chance of getting breast cancer by 90 percent, according to a landmark study that was published in the Journal of Clinical Oncology, March 15, 2004. If a woman has one of those mutations and has had her ovaries removed either previously or when she got the double mastectomy, she reduces her chance of breast cancer by 95 percent, according to the study. That’s because removing the ovaries eliminates most of the estrogen circulating in the body. Estrogen can stimulate breast cancer.

Lindsay Avner, founder of Bright Pink, a non-profit organization geared to at-risk women under 40—those with BRCA1 and BRCA2 genes — is recognized as a double mastectomy pioneer. About 7 years ago, she had both breasts removed due to her genetic mutation—with no lumps, no bright spots on a mammogram, no cancer symptoms whatever. Breast cancer had also hit a grandmother and great-grandmother; they died one week apart. Her mother has survived both breast and ovarian cancer.

“Despite the strong family history and having the mutation, people did not support her decision at the time,” Melody says. “Now the decision to remove disease-free breasts is not nearly as controversial.”

Guidelines set forth by the National Comprehensive Cancer Network state clearly that breast removal is an option that must be offered to patients, though the choice may be to opt for increased monitoring for the disease (mammogram and breast MRI).

Anyone who has a lot of cancer in their family, particularly people with family members who were diagnosed at a young age (see diagram 3) may want to consider consulting a genetic counselor.

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Note: The squares represent males and the circles represent females. The unshaded shapes represent unaffected individuals and the shaded shapes represent individuals diagnosed with cancer.

Details are needed from both the maternal and paternal sides of the family, as both have repercussions in a risk assessment. Age of diagnosis is particularly important because age is the top risk factor.

(1.) Older age at onset, few affected family members. Unlikely to have been caused by an inherited gene defect.


















The family history on the left is of some concern because of the early age of onset breast cancer (<50y) but otherwise is not highly suggestive of there being a hereditary basis for cancer. Cervical cancer is not associated with a known hereditary cancer syndrome. The more detailed family history on the right is highly suggestive of hereditary breast and ovarian cancer because the pattern of pancreatic, breast and ovarian cancers are seen in such families along with young age of cancer onset.

One comment

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I’m wondering if Jolie’s critics encourage us to just bury our head in the sand hoping cancer will just go away. Why is it ok to opt for bariatric surgery to improve or diminish the risk of diabetes, heart disease and a whole host of illness, but preventing cancer is not ok. Extreme measures are sometimes necessary to prevent a life threatening diagnosis. It’s our bodies and if we don’t help ourselves, who will?

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