Genetic counselors are specially trained healthcare professionals who provide the kind of information and guidance that could be particularly useful to young women with a family history of breast cancer, or who wish to know more about their personal cancer risks. Having this information could help guide their care towards additional cancer screening or risk management that could affect their fertility and even their longevity, and empower them to make specific lifestyle changes.
Christina Falugi and Colin Bixler, both cancer genetic counselors in UTMB’s Division of Pediatric Medical Genetics, and Pediatric and Adult Medical Genetics respectively, have clients who have either a personal or family history of cancer or have family history of a gene mutation and are concerned about their baseline risk of someday developing cancer.
“We focus on the 5-10% of cancer that is hereditary, but the vast majority of cancer, including cancer in young people, is sporadic,” Falugi said. “It is often due to things that happen to your body outside your control, such as environmental factors. There typically isn’t one specific identifiable cause.”
She said they currently knew of 13 genes that are associated with an increased risk of breast cancer and cause an increased risk of certain other cancers when someone is born with a genetic mutation in one of those genes.
“We all have those genes, so it’s a bit of a misnomer for a person to say they’re being tested to see if they have a certain cancer gene. We all have them,” she said. “The question is, is that gene working or not working. The cancer genes we look at are supposed to protect you; our lens is focused on those genes and if they are protecting the way your cells are supposed to grow.”
Falugi and Bixler said they can perform hereditary breast cancer testing which includes several different genes associated with an increased risk for breast cancer, to determine if the woman has a baseline increased risk for breast cancer. This testing includes the BRCA1 and BRCA2 gene tests, as well as other genes associated with an increased risk for breast cancer.
“BRCA1 and BRCA2 refers to two genes that we all have, or but if a woman is born with a mutation in one of them, she is at a much higher risk to develop breast cancer,” Bixler explained. “You could have a strong history of breast cancer, which is definitely worrying, or you could have a genetic mutation. But if you test positive, you don’t necessarily have 100% of developing cancer, your risk is just higher than the general population.”
Bixler said that if a woman tests negative for BRCA1 and BRCA2 or other breast cancer genes, it simply means she is not part of the highest risk category.
“But family history is still a risk factor, and there are different risk models that we can run to quantify different risk factors to estimate a woman’s lifetime risk of breast cancer,” he continued. “There are genetic factors, and other factors that we can’t identify, despite getting reassuring genetic testing. You may test negative for BRCA1 and BRCA 2, but still have other environmental or lifestyle risk factors that could still elevate your risk of breast cancer.”
He added that they tell women that the risk of breast cancer in the general population is about 12%. “That means about one in eight women will be diagnosed with breast cancer,” Bixler said. “Family history is a valuable tool, if you can get the information about it. That way, we can determine if your baseline risk is higher or closer to that average risk.”
Falugi said as genetic counselors, they focus more on the hereditary part. When people receive a cancer diagnosis under the age of 50, or if there are three or more relatives in a family with the same kind of cancer, or if there are generational patterns or clusters of cancer on one side of the family, that can also increase concern, in addition to the young age of diagnosis.
“It’s very valuable as a young person to know the family’s history, but being in tune with lumps in the breast and getting well woman exams is very important,” she said. “For the most part, breast cancer in younger women is still very rare, although it can happen. If you carry a gene mutation, then we might be prompted to start screening you earlier, and it might open the door for a woman to consider preventative surgery on the breast, but that’s if their risk is vastly higher.”
It’s still quite unusual for younger women to get breast cancer, but Falugi said that the key is for women to advocate for themselves.
“Know yourself. If something feels different, notify the doctor. Always get it checked out. More often than not, the lumps you find aren’t of concern, but still need to be checked to ensure we are not missing something, or provide reassurance,” she said.
Learn more about Genetic Counseling offered at UTMB Health.