When the BRCA2 Mutation Results in Breast Cancer

Gabriela Almeida remembers feeling a slight twinge in her left breast for a few months, but at the time she didn’t think much about it. She went on with her busy life, teaching seventh grade Spanish, taking care of her two daughters and hanging out with her mom and brother who live nearby in Boca Raton.

Life was good and she was in excellent health, she recalls. When it was time, she underwent her regular mammogram.

That’s when the picture changed: That twinge had been a symptom of breast cancer. She was surprised when testing showed she had the BRCA2 genetic mutation and that her cancer had already spread.

Ms. Almeida was relieved to get comprehensive care through the Breast Multimodality Clinic at Boca Raton Regional Hospital’s Lynn Cancer Institute, which, along with Miami Cancer Institute, is part of Baptist Health Cancer Care. “I could not have asked for a better team of experts,” Ms. Almeida says. “I truly believe that I received the best personalized treatment I could get. I owe them my successful survival story.”

Angelina The, M.D., medical oncologist at Boca Raton Regional Hospital’s Lynn Cancer Institute

Strategies for Success

Ms. Almeida’s treatment began in February 2022 with five months of chemotherapy to shrink her tumor, overseen at Lynn Cancer Institute by medical oncologist Angelina The, M.D. “Dr. The decided to do chemo first because the cancer was found on two lymph nodes and she wanted to prevent it from spreading further, which turned out to be the best course of action,” Ms. Almeida says.

Chemotherapy was followed by a double mastectomy performed by breast surgeon Joseph Colletta, M.D., and then by radiation treatment with oncologist Rashmi Benda, M.D.

All of her physicians were extremely caring, knowledgeable and thorough, Ms. Almeida says. She also appreciated the Institute’s multimodality approach, which brings together a team of experts to expedite convenient and leading-edge care.

Although her cancer was in her left breast, Ms. Almeida made the decision to remove both breasts after her BRCA2 mutation came to light.

“The benefit of removing both breasts is clear for young women who have a BRCA mutation because of the high risk of breast cancer occurring in the healthy breast in the future,” says medical oncologist Louise Morrell, M.D., medical director of Lynn Cancer Institute and an expert in cancer genetics. “Removing both breasts means treating the known cancer and preventing cancer in the opposite breast. She is a brave woman to make so many decisions to benefit her health, including the prevention of future cancers.”

Louise Morrell, M.D., medical oncologist and medical director of Lynn Cancer Institute and an expert in cancer genetics

Gene Mutations Can Contribute to Cancer

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Both genes are tumor suppressors, meaning they help prevent uncontrolled cell growth. Mutations in these genes increase the risk of several types of cancer.

More than 60 percent of women who inherit a harmful change in BRCA1 or BRCA2 will eventually develop breast cancer, according to the National Cancer Institute (NCI). It’s a greater than quadruple risk faced by those without the mutation. By comparison, about 13 percent of women in the general population develop breast cancer in their lifetime, the NCI says.

As science expands, more is being learned every day about the genetic contributors to cancer.

“We have seen an evolution of knowledge in recent years regarding the role genetics plays in determining an individual’s cancer risk,” Dr. Morrell says. If you have a strong family history or other risk factors, considering genetic screening can have an impact on prevention and treatment — and survivorship, she adds. “If you know you carry a genetic mutation, you can start screening earlier or take preventive action that saves lives.”

Knowledge of genetic mutations can be so valuable that Lynn Women’s Health & Wellness Institute, in conjunction with Lynn Cancer Institute, now offers on-the-spot genetic testing when women come in for their annual mammogram. In particular, it is suggested for those with a family history of breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, colon cancer or multiple cancers.

“Understanding if you have an inherited risk for cancer empowers you to prepare for your future,” Dr. Morrell says. “The opportunity for benefit is much broader than with any other type of screening test because it can be useful for other members and future generations of your family — especially your siblings and your children.”

Genetic testing can also help guide treatment. “The same technology that allows the study of DNA that we inherit allows DNA studies of tumors, and this is making a vast difference in the targeted, personalized treatments that we can provide for many different types of cancer,” Dr. Morrell says.

Making the Most of Life

Dr. Morrell notes that more is being learned every day, which can improve the odds for patients like Ms. Almeida.

“Her outcome is going to greatly benefit by the scientific progress in areas such as BRCA testing and BRCA-targeted treatments,” Dr. Morrell says.

With the hardest part of her treatment behind her, Ms. Almeida says she now feels excellent. She continues to be closely monitored by Dr. The, but “I feel stronger every day,” she says.

She is optimistic about the future and has happily returned to old activities. “I work, I exercise, I clean my house, travel. I walk my two golden retrievers, go to the beach, swim,” she says.

She is grateful for highly skilled and personalized medical care she received, but also for the compassion and caring she found at Lynn Cancer Institute.

“Lynn Cancer Institute is not just a medical center. They have emotional, psychological resources for every stage — from beginning to post-treatment. They have support groups, activities and family support,” she says. “I am very happy that I chose Lynn Cancer Institute to go through my treatment and healing process.”