Preventing cancer before it starts is something Dr. Lisa Barroilhet is passionate about. Many of her patients have a family history of breast or ovarian cancer, and an increased chance of developing that same cancer themselves.
"I have a lot of young patients and BRCA patients in my practice," Dr. Barroilhet says. "Something I spend a lot of time thinking about is how to prevent those patients from getting cancer and how we can better screen for cancer in that population."
BRCA, a shortening of BReast CAncer, are two genes that everyone, both male and female, have. They're tumor suppressor genes, meaning that their role in the body is to prevent cancer from developing. But when genes like BRCA don't function correctly, that's when cancer can start. Like any other genes, mutated BRCA genes can be passed down in families from generation to generation.
"This gene was identified because it was linked to families with a lot of breast cancer. Now as we've learned more it's not just breast cancer – ovarian cancers are very common in these families too, as well as some other cancers that have nothing to do with female anatomy," Dr. Barroilhet explains. "Once we learned more about these genes, and learned more about the risks that people who carried abnormalities in these genes have, we actually came upon a population of people we could really help – and help before they develop cancer."
While BRCA mutations are not very common in the general population – less than 1 percent carry the mutation – identifying the risks before cancer starts can give a patient a wider variety of options.
Dr. Barroilhet begins by looking at a patient's family history for a pattern of breast or ovarian cancers over multiple generations. "Even though we're talking about female cancers, DNA comes from both your mother and your father. So looking at the father's family history is just as important as looking at the mother's."
Some of the signs of a BRCA mutation in a family include:
Earlier cancer diagnoses. "One of the things we look for is breast cancer diagnoses before menopause. So women in their 20s, 30s, and 40s," she says.
A father, brother, uncle, or grandfather with breast cancer. "Males can get breast cancer," Dr. Barroilhet says. "And if that happens there's a very high chance that there is a BRCA mutation in that family."
Multiple cases of ovarian cancer. "Ovarian cancer is less common, so when we see more than one ovarian cancer in a small family group that would be cause to consider genetic counseling or testing."
If these signs are present, Dr. Barroilhet says the next step would be genetic testing, usually under the direction of a genetic counselor.
"It's a really smart way to go about genetic testing because it means you've met with an expert who's really reviewed your family's history and your specific risk," she says. "Genetic counselors are specially trained to go through a family history carefully, and order testing if indicated."
The actual test is very simple, and involves taking a salivary swab or blood sample from the patient and sending it to a lab. Typically, she says, insurance companies will cover genetic testing for patients with a family history. If the test results are positive for a BRCA mutation, Dr. Barroilhet says the specialized PATHS clinic at the UW Breast Center is a great place to have your specific needs assessed.
"The PATHS clinic is meant to help those patients see a variety of providers across disciplines in order to figure out what, if any, risk reduction strategies or enhanced screening they may want to participate in," she explains.
Surgery – removing the breasts or other organs at risk for cancer – is often what patients think of first, especially since actress Angelina Jolie made headlines with her positive BRCA diagnosis and subsequent surgeries in 2013.
"Because breasts and ovaries are not vital to human life, it's not an unreasonable course of action," Dr. Barroilhet says. While usually effective, surgery can be an extreme measure for patients who aren't ready to make that decision.
"Obviously there are tremendous repercussions, particularly for young patients who may not have had children yet, who are very far from the age of natural menopause, who may want to retain their breast tissue for breast feeding, or just for their own self-identity as a female," she says.
Fortunately, Dr. Barroilhet says there are lots of other risk reduction options, including chemo prevention and medications, such as birth control pills.
"You have to work with every individual patient to help them come up with their risk adjustment model for themselves," she says.
A BRCA diagnosis can be understandably overwhelming for any patient. But Dr. Barroilhet hopes that the knowledge can help her patients make more informed decisions.
"It can feel like a curse but it's also a gift," Barroilhet says. "We do know a lot about how to keep patients safe. So while these genes can feel like they've completely changed the course of someone's life, it can actually give our patients an opportunity to live the lives they wanted."