The recent disclosure by actress Angelina Jolie that she had undergone elective bilateral mastectomies to reduce her risk of breast cancer provides an opportunity to understand the science behind the BRCA gene mutation she carries. Jolie's mother died in 2007 of ovarian cancer at age 56, an indication for Jolie to consider BRCA gene mutation testing.
Also in the news is the recent passing of Pierce Brosnan's 41-year-old daughter, Charlotte Brosnan, from ovarian cancer. Charlotte's mother, Brosnan's deceased wife Cassandra Harris, died of ovarian cancer in 1991. Cassandra's mother had also died of this deadly disease. Here, we see the tragic consequences of the potential heritability of the risk of ovarian cancer. This provides a teachable moment. Knowledge about genetic cancer risk can empower women to make health choices that may save their lives.
The BRCA gene mutations (named for BReast CAncer risk) are associated with a marked increase in the risk of breast and ovarian cancer. The average woman has a 12% risk of breast cancer and a 1.4% risk of ovarian cancer during her life. Carrying a BRCA gene mutation raises the risk of breast cancer to 50-85% and the risk of ovarian cancer to 10-63%. Ovarian cancer is particularly dangerous, because there are no good screening tests, and it has often spread beyond the potential to cure when diagnosed.
Fortunately, preventive surgeries, such as double mastectomies and removal of the tubes and ovaries, have been shown to reduce cancer risks and lower mortality in carriers of the BRCA gene mutations. A large study by Domchek, SM, et al, published in the Sept. 1, 2010, issue of the Journal of the American Medical Assn., provides encouraging findings. For example, risk-reducing (prophylactic) removal of the tubes and ovaries in women with BRCA mutations was associated with a 76% drop in all-cause mortality.
There is other good news.
Hormonal contraceptives markedly reduce the lifetime ovarian cancer risk in all women, including carriers of the BRCA gene mutations, by 50% when taken for just four years. Under the Affordable Care Act, generic birth control and the vaginal contraceptive ring are completely covered by health insurance. With greater access to these medications, we should see ovarian cancer rates continue to drop nationwide, along with a reduction in unwanted pregnancies.
There are cancer patterns in families that warrant discussion with your personal healthcare provider and potential referral to a genetic counselor for genetic testing. A personal or family history of breast cancer under the age of 50, and any case of ovarian cancer or male breast cancer, are among the criteria for further investigation.
Jeanne Homer, a licensed certified genetic counselor and supervisor of genetic counseling at Hoag Hospital in Newport Beach, states, "I cannot overemphasize the importance of meeting with a genetic counselor when considering genetic testing, to assure that the appropriate test is selected."
There is more good news in this somewhat byzantine and morbid topic. Dr. Richard Frieder, director of genetics and preventive cancer care at the Pink Lotus Breast Center, where Jolie publicly stated she received her medical care, provided hopeful insights in a recent interview.
"Genetic counseling and every aspect of screening, surgery, medical treatment and all follow-up care are deemed preventive in women's health and are therefore covered by health insurance," he says. "There is a critical shortage of counselors trained in cancer genetics. Understanding the beneficial health outcomes from acting upon the knowledge of carrying a dangerous cancer gene mutation will continue to unfold. Testing the estimated 1 million American women who carry cancer gene mutations that are as yet undiagnosed is a massive public health challenge."
The BRCA gene mutations have a dominant effect, so inheriting them from one parent is enough to cause their full expression. Therefore, both the father's and the mother's family cancer history should be considered independently. The Ashkenazi Jewish population from Eastern Europe carries the BRCA gene mutations at 10 times the rate of the general population. Norwegians, French Canadians, Dutch and Icelanders are other ethnic groups with a higher rate of the BRCA gene mutations.
Let's turn the rash of celebrity news about family histories of ovarian cancer into a better understanding of BRCA gene mutations. Expansion of the number of trained counselors skilled in cancer genetics is critical to the quality of care. All primary healthcare providers should realize that assessing the evolving family cancer history of a patient is appropriate during routine health maintenance. Knowledge about a woman's cancer gene status can empower her to make health choices that may save her life.
JANE K. BENING, M.D. is a board-certified gynecologist who has lived in Laguna Beach and has had a private medical practice in Newport Beach for 21 years. She can be reached at (949) 720-0206 or firstname.lastname@example.org.Copyright © 2015, CT Now