March 24, 2015 6:24 pm

What you should know about Angelina Jolie’s BRCA-1 gene and ovarian cancer

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WATCH ABOVE: Dr. Samir Gupta explains what you need to know about Angelina Jolie and ovarian cancer. 

More On Call with Dr. Samir Gupta stories on Globalnews.ca

TORONTO – Angelina Jolie revealed in a New York Times op-ed Tuesday that she has had her ovaries removed, and described her experience with the BRCA 1 mutation.

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As with when she wrote about having her breasts removed in 2013, she has raised a great deal of awareness about breast and ovarian cancer, BRCA mutations, and cancer in general.

BRCA 1 and 2 stand for breast cancer type 1 and 2 susceptibility genes, which are inherited genetic mutations.  Although these are only responsible for about 10 per cent of overall breast cancers and 15 per cent of overall ovarian cancers, the women who carry these mutations have a 50 to 60 per cent lifetime risk of breast cancer a 20 to 40 per cent lifetime risk of ovarian cancer.

Unfortunately, the only proven approach to truly protect against these cancers is to remove both breasts, which reduces breast cancer risk by about 90 per cent, and to remove both ovaries, which reduces ovarian cancer risk by about 80 per cent.

READ MORE: Why the actress had ovaries, fallopian tubes removed

What’s interesting is that it seems as though she was holding off on having her ovaries removed.  However, some of her screening tests were recently abnormal, leading to an ovarian cancer scare, which seems to have led to this decision.

Indeed, the decision to have surgeries like this is very personal, with lots of pros and cons.  Aside from the minor surgical risks, we know that even with immediate breast reconstruction, there are important psychological effects of bilateral mastectomy (breast removal), including effects on body image.  Ovarian removal has effects on libido and sexual functioning, bone and cardiac health, and results in infertility and early menopause.

On the other hand, if women choose not to have the surgery, they can take medications called aromatase inhibitors to reduce the risk of breast cancer, and oral contraceptive pills to reduce the risk of ovarian cancer, but these are not well proven, and cancer risk still remains very high compared to the general population.

READ MORE: Breast cancer and genetics – Angelina Jolie’s double mastectomy

Women require extensive screening, including annual mammography and breast MRIs after age 25. They should also have twice yearly transvaginal ultrasounds and a blood test for a cancer marker starting at age 30 (and even earlier if family members were diagnosed with cancer at a young age).  Ironically, frequent mammography may increase the chance of getting breast cancer because of radiation, and none of these screening modalities are 100 per cent effective (cancers can slip through – especially ovarian cancers).

After all is said and done, I suspect that the decision to pursue surgery is largely a function of how one copes with uncertainty and risk, and their personal experiences with loved ones who had cancer – Angeline Jolie lost both her mother and grandmother to cancer.

TOP 5:  What you need to know about Ovarian Cancer

  1. Ovarian cancer affects about 1.5 per cent of women over a lifetime.  In Canada, this translates to about 2,700 new cases per year.
  2. Most cases are diagnosed at an advanced stage.  Unfortunately this is a cancer that grows without many symptoms, and about 60 per cent  of patients already have distant metastases by the time they are diagnosed.
  3. Survival is poor.  Five-year survival is over 90 per cent for the minority of women with early stage disease, but only 25 percent for those with metastases.  Overall, the survival is about 45 per cent five years after diagnosis.
  4. There are risk factors and protective factors.  Genetic mutations like BRCA are the major risk factor, but polycystic ovarian syndrome, early onset of menstruation and late menopause are also risk factors, whereas use of oral contraceptives and having had at least one full term pregnancy seem to reduce the risk.
  5. Screening is ineffective.  We do have a blood marker called CA-125 that goes up in most cases of ovarian cancer, but unfortunately it also goes up in a lot of benign conditions, and studies have shown that this blood test and other strategies like screening ultrasounds cause more harm than good in the general population.

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