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BRCA gene mutation and cancer: You have options, despite heredity

May 23, 2013

In the news recently, celebrity Angelina Jolie discussed her decision to undergo a preventive double mastectomy to reduce the risk of breast cancer. Since then, many people have been asking me – if she is BRCA positive, what about the ovaries?

Removing the tubes and ovaries (salpingo-oophorectomy) can dramatically and effectively reduce the risk of an ovarian cancer in women with a high risk – such as those with a BRCA mutation.

The BRCA gene mutation increases the risk of breast cancer AND ovarian cancer. The risk of ovarian cancer in those who carry the mutation over a lifetime is as high as 20-50 percent. Considering that ovarian cancer is often found very late, prevention is crucial for those at high risk.

The BRCA genes are repair genes. When they don’t work correctly, cells have a harder time fixing themselves. Cells can mutate and those mutations can build up, leading to a cancer. Women with such a mutation can develop cancer earlier in life – sometimes in their 40s and 50s.

Jolie noted that she wanted to be “proactive” which requires understanding your personal and family history and your own individual risk. In her article published in the New York Times, she states that her doctors estimate that her risk for ovarian cancer is 50 percent, which is on the high end. As in Jolie's case, when the risk is high enough, removing the tubes and ovaries is a reasonable option to decrease future cancer risk. Meeting with a genetic counselor or gynecologic oncologist can help with such a decision.

Who should get tested for a BRCA gene mutation? People with a breast or ovarian cancer history in their family should certainly ask their doctor. Those people are often at a high risk of developing one or both of the cancers. The mutated genes are also often found in those with Ashkenazi Jewish ancestry, Icelandic, Dutch, Mexican Jewish, or French Canadian ancestry. Your personal and family history is the most important criteria. If a member of the family is living with cancer, they should be tested first.

It is important to remember that the fallopian tubes also need to be removed when removing the ovaries to decrease your ovarian cancer risk. Many, if not the majority, of ovarian cancers actually start in those tubes. They should be removed when trying to minimize the risk of ovarian cancers.

Our best data tells us that women at the very highest risk should consider doing this after finishing childbearing, or around age 35. There is no ‘right’ age to get the procedure done, however. Sometimes we counsel women to have the tubes removed first and then to have the ovaries removed later.

Removing the uterus may also be helpful in certain persons with a breast cancer history – especially if they are planning on being on tamoxifen at some point. Those persons may want the uterus removed at the same time to avoid risk of uterine cancer in the future.

Removing the ovaries leads to menopause, which may cause bone loss, hot flashes, or vaginal dryness. Surgery also carries risk, which varies from person to person based on their personal medical and surgical history.

If you are concerned about your familial breast cancer risk or ovarian cancer risk, please do talk with a genetic counselor and gynecologic oncologist. Prevention as cure is a  wonderful option for many women.

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