Medical advancements like genetic testing mean we can detect our individual risk for developing serious illnesses earlier than ever — and, more importantly, take measures to protect our health. Still, learning you are may be genetically predisposed to develop an illness — like if you have a BRCA gene mutation — can be overwhelming.
According to the Centers for Disease Control and Prevention (CDC), about one in 500 people have a BRCA gene mutation, which comes with a higher risk for both breast and ovarian cancer. But what, exactly, does carrying a BRCA mutation mean, and what’s the best way to safeguard your health if you find out you have one? We spoke with three experts to find out.
What is the BRCA gene mutation?
The name “BRCA” is short for “BReast CAncer gene” — but it’s important to know that BRCA genes themselves don’t cause cancer. BRCA genes are normal genes everyone has, and they actually help prevent cancer by repairing DNA damage that could lead to tumor growth. Dorraya El-Ashry, chief scientific officer at the Breast Cancer Research Foundation, says the potential issues arise when an individual has a BRCA gene mutation, which is essentially a BRCA gene that doesn’t repair damaged DNA — thus increasing an individual’s cancer risk.
“Mutated BRCA1 and BRCA2 fail to do their jobs, and that can increase the risk for breast and ovarian cancer in women, for prostate cancer in men, and for pancreatic cancer,” El-Ashry says.
While a BRCA gene mutation leads to a higher risk of several cancers in all genders, it’s primarily associated with an increased risk of breast cancer in women. Melissa L. Pilewskie, a breast surgeon at the Memorial Sloan Kettering Cancer Center (MSKCC) and director of strategic planning and research of the RISE Program, which helps follow women at high risk for breast cancer, says the greatest risk in cancer seen among women with a BRCA mutation is breast cancer, followed by ovarian cancer.
When to begin care for preventing breast cancer depends on a person’s individual risk factors, but can start as early as your mid-20s.
El-Ashry says about 12 percent of women in the general population is at risk of having breast cancer in their lifetime, but the likelihood of diagnosis goes up to about 70 percent for those with a BRCA mutation.
How do BRCA1 and BRCA2 differ?
Both BRCA1 and BRCA2 mutations come with unique cancer risks, according to Pilewskie. BRCA1 mutation carriers are more likely to develop triple-negative cancer, a more aggressive, difficult-to-treat type of cancer. BRCA2 carriers, on the other hand, are more likely to get estrogen-positive cancer, a form of breast cancer involving the hormone estrogen.
However, it's important to note that the level of risk for developing breast cancer doesn’t differ much for each gene mutation: El-Ashry says a BRCA1 mutation leads to a 72 percent risk of developing it by age 80, and a BRCA2 mutation comes with a 69 percent risk.
What does having a BRCA mutation mean for patient care?
No matter which type of mutation someone has, Pilewskie says annual screenings are the first step. While we advise average-risk individuals to start getting yearly mammograms in their 40s, BRCA mutation carriers need different types of screening, sooner and more often. According to El-Ashry, “active screening” methods include self-exams, bi-annual clinical exams, and annual mammograms, and breast MRIs.
“When I see someone with a BRCA mutation, it increases the type of screening we would do,” says Pilewskie. “We want to increase surveillance, but we know this doesn’t reduce the risk; it just detects cancer at an earlier stage.”
Julia Smith, an oncologist at the Perlmutter Cancer Center, says in addition to mammograms, those with mutated BRCA genes may also want ultrasounds and annual breast MRIs, which are more sensitive and could detect signs of cancer earlier. “For breast cancer surveillance, I recommend a mammogram with ultrasound, alternating every six months with MRI,” she says.
According to data from Memorial Sloan Kettering, on average, for women with an altered BRCA1 gene, the risk of developing ovarian cancer is 40 to 60 percent by age 85. For BRCA2 mutations, the risk for cancer of the ovary is also increased — between 16 and 27 percent by late age. For these women, additional screening may be necessary, though Smith noted that screening has not yet been shown to change overall survival.
Since ovarian cancer is more difficult to screen, Smith says the general recommendation for BRCA mutation carriers is prophylactic removal of the ovaries and fallopian tubes (often, ovarian cancer starts in the fallopian tubes). Taking birth control pills for five years can also significantly decrease the risk of developing ovarian cancer, according to Smith.
For other types of cancer, screening recommendations can vary by organization. For example, according to Pilewskie, the National Comprehensive Cancer Network (an alliance of 28 cancer centers in the United States) states that individuals with a BRCA mutation should be educated on additional cancers that may be associated with these mutations, but there are no specific guidelines for screening for other cancers, in particular for pancreatic cancer, at this time.
Smith recommends that people with BRCA mutations should also have regular screenings of their skin and eyes to check for melanoma, along with GI surveillance to screen for pancreatic cancer, though she noted that pancreatic screening will be somewhat dependent on the family history as well.
“These cancers are a much lower risk, and it’s much more likely they will never have them, but the point is, they’re elevated over the general population,” Smith says. “Since we have screening, it’s worth considering.”
What are the preventative care options for both gene mutations?
Whether you have additional risk factors or you simply want to be more aggressive in your preventative care, there are a few effective methods for reducing your cancer risk.
The most reliable (though also the most intrusive) way to prevent breast cancer for both BRCA mutations is to remove the breasts. “With prophylactic mastectomies, we reduce the risk by about 95 percent for breast cancer, so it’s very effective, but it’s a big decision,” Pilewskie says. “Since we often talk about breast reconstruction sometimes it’s more than one operation.”
For preventing ovarian cancer, removal is the most reliable method. “Women with a BRCA1 mutation are at a slightly higher risk for ovarian cancer at a younger age, so we usually start the discussion around removing ovaries between ages 35 and 40, and for BRCA2, between ages 40 and 45,” Pilewskie says.
"The optimal recommendations for screening and risk reduction really depend on the magnitude of risk."
Since oophorectomies interfere with childbearing, it’s important that those who want to have children talk to their doctors to come up with a plan for risk reduction and family planning. Prior to ovary removal, Smith says taking birth control pills for five years can reduce the risk of ovarian cancer — then, someone who wants to get pregnant can stop the birth control pills prior to having their ovaries removed.
There’s also the option of having a prophylactic oophorectomy at an earlier age and freezing your eggs. To reduce the risk of passing a BRCA mutation on, Smith says some carriers choose to do pre-implantation genetic testing and fertilize the embryos without BRCA mutations. “This means in vitro fertilization instead of natural intercourse insemination, but it’s an important option to be aware of,” she says.
When should people without the gene mutation start getting preventative care?
When to begin care for preventing breast cancer depends on a person’s individual risk factors, but can start as early as your mid-20s, according to Smith. According to the CDC, average-risk people should generally begin getting annual mammograms in their forties. Though, Pilewskie noted there are now a number of differing recommendations for when to start screening for average-risk people ranging from age 40 to 50. And at MSKCC, they continue to recommend annual screening beginning at age 40 for average-risk people.
Pilewskie says for those with a family history of breast cancer, MSKCC recommends screening at age 40, or 10 years younger than the youngest family member with breast cancer. For example, “if you have a first-degree relative who had a diagnosis at age 45, you would start screening in your mid-30s,” says Pilewskie.
But again, El-Ashry stresses the importance of having this conversation with your doctor. “For some it is even earlier than 40 and this is really where you need to have a discussion with your doctor about risks to determine when to begin screening,” says El-Ashry.
“The optimal recommendations for screening and risk reduction really depend on the magnitude of risk,” says Pilewskie. For those with moderate risk factors, Pilewskie says they determine the appropriate screening based on the type of risk factors. For example, MRI is recommended for women with a strong family history, those with a genetic mutation that increases risk, and those with a history of chest wall radiation at a young age. “Prophylactic mastectomies are normally reserved for women at the highest risk. Chemoprevention is another option for women at moderate risk,” says Pilewskie.
No matter what your breast cancer risk, simple lifestyle changes like exercising more and drinking less can help lower your chances of a diagnosis. “The things we discuss where there’s some science to suggest a link are exercise, avoidance of obesity, and alcohol in moderation,” she says. “Those are things we counsel everyone who comes in.”
The most important thing for anyone who wants to be proactive about cancer risk, is to work with a genetic counselor and clinician to assess your personal risk factors, says Smith. “You have to have someone who really understands and can design an appropriate screening regimen, given your own individual risk,” she says. “You want to do whatever you can to protect yourself.”
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Originally Appeared on Allure