[Column] Gynecologic cancers in women with BRCA gene mutations

Angelina Jolie, a Hollywood star, film director, playwright, and UNICEF Goodwill Ambassador, had a family history of cancer. Jolie’s mother had breast and ovarian cancer, her maternal grandmother had ovarian cancer, and her aunt died of breast cancer at an early age.

In 2013, when genetic testing revealed that she carried a mutation in the BRCA1 gene, Jolie underwent a series of surgeries that were recommended as a preventative measure -- a bilateral mastectomy and ovarian and fallopian tube removal -- which garnered widespread public and medical attention.

Jolie's impact, dubbed “the Angelina effect” in a TIME magazine cover story, sparked a “global and sustained” increase in BRCA gene testing.

What are BRCA1 and BRCA2 mutations?

The BRCA1 and BRCA2 genes help repair damaged DNA in the body. There are many different mechanisms by which damaged DNA is repaired, but the BRCA1 and BRCA2 genes play an important role in homologous recombination, one of the most powerful and accurate.

When these genes function normally, cells can repair DNA damaged by various causes and prevent cancer from developing. However, when mutations occur in these genes, the ability to repair DNA is impaired, leading to abnormal cell proliferation and an increased likelihood of cancer.

Although studies vary, it is estimated that women with BRCA1 mutations have a 60-72 percent chance of developing breast cancer and a 39-58 percent chance of developing ovarian cancer in their lifetime. Women with BRCA2 mutations also have a 55-69 percent chance of developing breast cancer and a 13-29 percent chance of developing ovarian cancer.

Considering that the incidence of breast cancer is 12 percent and ovarian cancer is 1 percent in the general population, these glands are at six to seven times and 20 to 40 times increased risk, respectively.

Importance of preventive salpingo-oophorectomy

Prophylactic salpingo-oophorectomy is recognized as the most effective way to prevent ovarian cancer in women with BRCA1 or BRCA2 mutations. This surgery removes the ovaries and fallopian tubes, which can reduce the risk of ovarian cancer by more than 80 percent. It also helps reduce the risk of breast cancer. Studies have shown that women who undergo prophylactic salpingo-oophorectomy have a 50 percent reduction in the risk of developing breast cancer.

As a result, prophylactic salpingo-oophorectomy has a positive impact on survival rates. It becomes more treatable and improves overall survival by preventing cancer development or detecting it early. Therefore, for women with BRCA1 or BRCA2 mutations, this surgery should be considered as an important life-prolonging option.

It is generally recommended that women with BRCA1 mutations undergo salpingo-oophorectomy before the age of 40 for women with BRCA1 mutations and 45 for women with BRCA2 mutations, depending on when they develop ovarian cancer and their desire to have children. Fortunately, advances in minimally invasive surgery, such as single-hole laparoscopic surgery, have made the procedure reasonably straightforward.

However, as with any surgery, preventive salpingo-oophorectomy is not without risks and side effects. In particular, the surgery can lead to various health problems, including premature menopause, increasing the risk of osteoporosis, cardiovascular disease, and cognitive decline.

Prophylactic salpingo-oophorectomy can also have mental and psychological effects. The loss of fertility due to surgery can be a significant psychological burden for some women, so it is important to provide counseling and psychological support before and after surgery.

In addition to prophylactic salpingo-oophorectomy, other preventive measures exist for women with BRCA1 or BRCA2 mutations. For example, regular breast and ovarian cancer screening and risk reduction with hormonal medications. Reports also say that breastfeeding is effective in preventing ovarian cancer. These alternatives can be chosen based on individual circumstances and preferences, and it's important to consult with a specialist in hereditary cancer to determine the best prevention strategy.

After her prophylactic surgery, Jolie wrote an op-ed in the New York Times about her mastectomy and oophorectomy to help other women make informed decisions, especially those who are concerned about losing their femininity as a result of prophylactic surgery. As a result, she has appropriately helped high-risk women make wise and courageous decisions, and her example is a compelling living example in our gynecologic offices.

At 49 years old, Jolie is still going strong and doing good public work, speaking out against war and being a voice for women and children exposed to violence. I hope that everyone who reads this article, especially women at risk for gynecologic cancers who learn of their BRCA gene mutation, will be empowered to make the right decisions and enjoy the precious life they have been given.