Let's Discuss: BRCA1 & BRCA2
June 1, 2017
In 2013, Angelina Jolie shared with the world that she had a preventative double mastectomy when doctors discovered through simple blood tests that she was a carrier of the breast-ovarian cancer gene, BRCA1 – putting her personally at an 87% risk of developing breast cancer and a 50% risk of ovarian cancer within her lifetime. Already losing her mother to ovarian and breast cancer, and now knowing how high her odds were, she wanted to limit her risk as much as possible. She expressed in her New York Times Op-Ed piece that the decision to have a mastectomy and remove her ovaries was definitely not an easy one. But she opted to move forward, because the procedures would significantly decrease her chances of developing those cancers. By publicly sharing her medical choice, she sought to educate other women about their options and shed light on the complex challenges inherent in carrying a BRCA1 or BRCA2 mutation.1
Although only a small percentage of men and women get cancer from an inherited gene mutation, those who carry the BRCA1 defect have a 65% chance of getting it, on average.1 Gene mutations are not, by any means, the number one cause of cancer – family history, environmental toxins and plain old luck beat genetics, hands down – but the underlying message of Jolie's announcement helped raise awareness about these known mutations and breast cancer. To learn more about BRCA1 and BRCA2, read on.
What are BRCA1 and BRCA2?
According to the National Cancer Institute, Breast Cancer Susceptibility Gene 1 (BRCA1) and Breast Cancer Susceptibility Gene 2 (BRCA2), also known as the breast cancer genes, are two different types of tumor suppressing-genes that produce proteins. Everyone has these genes, but when DNA is damaged, these proteins can help stabilize our cells from multiplying too quickly. If these proteins are mutated and can't function the way that they're supposed to, the damage made to our DNA cannot be repaired. Therefore, our cells are more likely to develop additional genetic mutations (abnormal changes) that can lead to cancer, such as breast, ovarian and others. When combined, BRCA1 and BRCA2 make up about 20-25% of hereditary breast cancers and about 5-10% of all breast cancers, as well as about 15% of all ovarian cancers.2
What are the risk factors?
According to most recent studies, 1 in 8 women (12%) will develop breast cancer in their lifetime. However, if you carry mutations in the breast cancer genes, your chances are greatly increased to about 3 in 5 – from approximately 55-65% with BRCA1 and 45% with BRCA2. Same goes with ovarian cancer – with the BRCA1 gene, there's an approximate 39% chance you'll inherit harmful mutations and a 17% chance with BRCA2. Moreover, if a parent carries a mutation in one of these genes, their children have a 1 in 2 chance of inheriting the mutation as well.3
Testing for BCRA1 and BCRA2
While a handful of different screening protocols are available through genetic programs, the decision to test for a BRCA mutation is a personal one. Some consider knowledge as power and become motivated by the opportunity to make their own choices around prevention and treatment. For others, testing can bring an overwhelming sense of individual responsibility, creating an overload of anxiety. Many times, the decision to test comes after seeing a family member receive a diagnosis – the fear around going through something similar can be both triggering and paralyzing. No matter the circumstance, the choice of whether to test or not to test should not to be taken lightly and if elected, must always be conducted with the guidance of a trained counselor.
What if you’re a carrier of a breast cancer genetic mutation?
If someone has already received a breast cancer diagnosis, understanding whether one is a carrier of BRCA1 or BRCA2 is important. The gene mutations can predict the type of cancer one has and thus, the treatment one receives. They can also increase the risk of getting another primary breast cancer down the road, meaning that with this knowledge, patients often opt for a more aggressive protocol from the onset.
Those who test positive for BRCA1 or BRCA2 prior to receiving a breast cancer diagnosis have a few options, such as early detection practices, and increased monthly breast self-exams, clinical breast exams, and mammograms. Many will follow in the footsteps of Angelina Jolie in becoming “previvors” – undergoing prophylactic mastectomies and oophorectomies [the removal of one’s ovaries] to remove as much at-risk tissue as possible and reduce the chance of developing cancer. Doing so can improve one’s odds of developing breast cancer by 95% and ovarian by 90%.2
Preventative drug treatments are also available, but studies aren’t clear how useful these drugs really are just yet.
Most important is to understand your risk factors and be proactive. In 2013, the United States Preventative Services Task Force recommended that women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer be evaluated to see if they have an increased likelihood of carrying BRCA mutations. Which means most insurance plans now cover the cost of screening. To learn whether testing is recommended for you, talk with your doctor or seek out the advice of a local genetic counselor.2
"I do not feel any less of a woman. I feel empowered that I made a strong choice that in no way diminishes my femininity." – Angelina Jolie