Understanding the BRCA Gene Mutation and Its Family Impacts for Cancer Risks
- Early-stage breast cancer means there is a small tumor in the breast, and no lymph nodes are impacted.
- Treating cancer in this early stage usually involves removing the cancer through surgery with the possibility of radiation. The type of surgery may include a lumpectomy (removal of the tumor and surrounding tissues) or a mastectomy (removal of the breast).
- Genetic tests can be as simple as a simple saliva swab or blood sample. The results help your care team determine if you have a specific mutation that puts you at higher risk for cancer. The results help doctors tailor your treatment and are helpful for breast cancer patients.
- Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1 and BRCA2 testing (gene mutations that elevate cancer risk) or a more comprehensive gene panel that might consist of 15-25 genes.
- Genetic counselors help patients better understand the results of genetic testing. Patients should ask their care team for a counselor if they’ve undergone genetic testing.
Jessica Busby, 33, of Northeast Maryland, says she is her mom’s biggest supporter and vice versa. The duo are both breast cancer survivors. Their story is remarkable, and it's also an example of the increasing importance of understanding genetic risk for cancer. Both Busby and her mom are carriers of the BRCA gene mutation, which puts them at higher risk of developing breast and ovarian cancer.
Busby’s mom was 55 when she was first diagnosed with early-stage breast cancer in 2011, and at the time, she learned she was a carrier of the
BRCA2 gene mutation after undergoing genetic testing. Learning from her mom’s experience, Busby underwent genetic testing of her own to learn whether the gene had been passed down to her. Although undergoing genetic testing can cause anxiety, Busby says she wasn't afraid and preferred to learn about her cancer risk. “I was positive of the gene mutation as well,” Busby told SurvivorNet.
Dr. Julie R. Gralow , the Chief Medical officer and the Executive Vice President of the American Society of Clinical Oncology, tells SurvivorNet that “Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1/2 testing or a more comprehensive gene panel that might include 15-25 genes.” Related:
Genetic Testing for Breast Cancer: What is This Type of Test? And What Do My Results Mean? WATCH: Genetic Testing for Breast Cancer Upon learning of her elevated cancer risk, Busby said she started getting mammograms – which screen for breast cancer – every six months. “In my opinion, knowledge is power, so it took about five hours of my entire year between mammograms, doctor’s appointments, and MRIs for me to sleep at night,” Busby explained. During one of Busby’s routine mammograms, the MRI found something. "It was small. So, I went for a biopsy, and it came back that it was stage one breast cancer. Even though it was caught early, I'd never in my wildest dreams thought that I would have cancer at 32 years old," Busby said.
How Genetic Testing Helps Cancer Patients
It Was a Really Rough Day For Me
After learning she had early-stage breast cancer, Busby said, “It was a really rough day for me.” "It was terrifying...But again, I was fortunate enough that I didn't feel anything. I didn't feel a lump or anything like that because of where the tumor was. Had I not been going for mammograms and MRIs, who knows what would've happened,” Busby said. Early-stage breast cancer means there is a small tumor in the breast, and no lymph nodes are impacted. Treating cancer in this early stage usually involves removing the cancer through surgery with the possibility of radiation. The type of surgery may include a lumpectomy or a mastectomy. Busby underwent a double mastectomy followed by breast reconstruction for her treatment. “[Double mastectomy and reconstruction] were really, really hard surgeries both emotionally and physically, but luckily, nothing at spread. I didn’t need radiation or chemo. Overall, I’m back to being active,” Busby explained.
WATCH: Choosing between a lumpectomy or mastectomy. During a mastectomy, the breast is removed. In a double mastectomy, both breasts are removed. In many cases, women choose to undergo breast reconstruction. Reconstruction gives women the chance to have implants put in right after the mastectomy procedure. However, some women choose not to have reconstruction at all.
Dr. Elisa Port , Chief of Breast Surgery at Mount Sinai Health System, told SurvivorNet that most women do opt to have some reconstruction. Depending on what sort of surgery a woman chooses, the time spent in surgery can vary greatly. There are many different options and techniques available for reconstruction — from implants to using a woman’s own tissue — and choices about when to get the
reconstruction , meaning immediate (at the time of mastectomy) or delayed (which could be months or even years later).
Diagnosed For a Second Time
Busby says she and her mother’s relationship grew even closer after her mom was diagnosed with early-stage breast cancer for a second time. "She ended up having to go through a double mastectomy earlier this year, which was weird for me because I had to coach her through it because I had already gone through it," Busby said. “I’m probably her biggest support, but she’s also my biggest support because I call her every day when I’m walking my dog,” Busby explained. “We’re both on medication, and we both talk about our side effects. We moan and groan about it, but we’re grateful things were caught early,” Busby added. Since Busby's mom's cancer was caught early, after surgery, she did not need to undergo grueling chemotherapy.
WATCH: Seeking support after a diagnosis. If you were recently diagnosed with cancer, you likely know about the wide range of emotions that news can bring. This is one of the most challenging phases of the cancer journey to overcome. However, a team of supporters can be most useful during these early stages. Your supporters can be close family members and friends or people from outside your inner circle. "Some people don't need to go outside of their family and friends circle. They feel like they have enough support there," New York-based psychiatrist
Dr. Lori Plutchik tells SurvivorNet. "But for people who feel like they need a little bit more, it is important to reach out to a mental health professional," she added. One benefit of having supporters is that they can help alleviate stress and anxiety following your diagnosis and advocate for you during treatment.
Which Mutations Are Important to Look for in Breast Cancer?
The BRCA1 and BRCA2 gene changes are still the most important ones to look for in breast cancer. Together, they are responsible for about half of all hereditary breast cancers. In a person without mutations, these genes prevent cells from dividing haphazardly and uncontrollably. Mutations prevent these genes from doing their job and can allow unchecked growth of breast, ovarian, and other tissues. This voracious growth paves the path for cancer development. BRCA1 and BRCA2 gene mutations increase the risk of developing breast cancer by up to 85% during their lifetime. To break it down, only 13% of all women will develop breast cancer during their lifetimes. If they carry the mutations, their risk increases to 45%-72%, depending upon their exact mutation. The presence of such mutations can have a significant impact on the treatment options for women carrying them. “Presence of a BRCA1/2 gene mutation (or others associated with high risk) may impact surgical decision-making in a patient who is newly diagnosed with breast cancer,” says Dr. Gralow. “It should not really impact treatment of the current cancer (eligibility for lumpectomy versus mastectomy), but the presence of such a mutation carries a very high risk of developing a second breast cancer, so bilateral mastectomy is a reasonable consideration to reduce the risk of second cancer,”
Dr. Julie R. Gralow , the Chief Medical officer and the Executive Vice President of the American Society of Clinical Oncology, tells SurvivorNet. Recent
research has also identified other mutations that may increase the risk of breast cancer. These include changes in PALB2, ATM, CHEK2, KRAS, CDH1, TP53, PTEN, and numerous other genes. Modern genetic testing panels can look for mutations in more than 80 genes simultaneously.
Where can you get help after undergoing genetic testing?
Busby explained that undergoing genetic testing helped her be more proactive with breast cancer screening. "I think it made all the difference," Busby said. “If someone gets a genetic test result back, it’s really important for them to know what this is. (What does this) mean for them? Put it into context,”
Dr. Elisa Port, a surgical oncologist at Mount Sinai, previously explained to SurvivorNet. Genetic counselors help patients during this critical phase of understanding. “What does it mean for their family members? For their relatives? Genetic counseling to follow up genetic testing is a really, really important part of the whole process and is not always available in the direct-to-consumer type avenue.”
According to the U.S. Centers for Disease Control and Prevention, your doctor can refer you for genetic counseling based on your personal and family health history. "If you know that you have, have family, have a history of breast cancer, or if someone else in your family has cancer, I definitely recommend talking to your doctor. But also AstraZeneca has this really great website
BeBRCAAware , and there's a ton of information there," Busby explained.
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