When High-Risk Becomes Breast Cancer

Nicole “Dahlia” Bell knew she was BRCA2-positive, putting her in a high risk-category for breast cancer. In fact, her sister, who also tested positive for the genetic mutation, was diagnosed in her 20s with breast cancer and eventually died from the disease. So it wasn’t exactly a surprise when she received the same diagnosis in 2023 at age 46.

But the finding — after symptoms of swelling, tingling and a lump in her right breast — highlights the need for specialized monitoring for high-risk patients, says Lauren Carcas, M.D., a breast medical oncologist at Baptist Health Miami Cancer Institute in Plantation.

Lauren Carcas, M.D., a breast medical oncologist at Baptist Health Miami Cancer Institute in Plantation

“She was keeping up with annual screenings but was not being followed by a high-risk clinic. Her cancer grew from one year to the next. Her story illustrates the importance of having a team of specialists in a high-risk/prevention clinic if you have a known predisposition,” Dr. Carcas said. High-risk clinics such as the one at Miami Cancer Institute can assess and evaluate patients; provide targeted care diagnostic studies, genetic education and counseling; improve outcomes through early detection; and offer comprehensive support and referrals to specialists.

The Coral Springs resident turned to Dr. Carcas and the team of breast cancer experts at Miami Cancer Institute in Plantation for care. “Dr. Carcas is a wonderful, compassionate soul,” she said. “And the nurses in the chemotherapy room made me laugh and made the process go by so fast and stress-free. From the moment you walk through the door, the receptionist made me feel welcome. The doctors, the nurses, even the phlebotomist — I am so scared of needles — made my experience relaxing. This is something I will never forget.”

Breast cancer is the second-leading cause of cancer death, behind lung cancer. Nearly 370,000 new cases are expected to be diagnosed in the U.S. this year, according to the American Cancer Society. In addition to living a healthy lifestyle for prevention, it’s critical, the doctors agree, to know your family history. Since half of our DNA comes from each parent, it’s important to understand the history of cancer on both your mother’s and father’s side.

In addition to BRCA1 and BRCA2 mutations increasing your risk for breast cancer, other gene mutations that can predispose you to cancer include ATM, BARD1, CHEK2, PALB2, RAD51C, RAD51D, CDH1, TP53, NF1 and STK11. Up to 15 percent of cancers are believed to be hereditary, but not everyone with a genetic mutation will develop cancer.

Ms. Bell was treated with chemotherapy, which was followed by a double mastectomy and then radiation and reconstruction. “The recovery is a process that is one thing after another. But I don’t mind because cancer is not to be played with,” she said. “I try my best to continue to do all, if not most, of what I was doing before I started this journey.” She has focused on staying positive for her son and taking pleasure in the things she has always enjoyed like singing, dancing and crafting.

“She will require hormone blocker therapy and a pill we can use in BRCA-positive patients to reduce risk of cancer return,” Dr. Carcas said. “But her prognosis is very good.”

While the incidence of breast cancer is on the rise, particularly among women under age 50, fewer are dying from the disease. “We have more options to progressively decrease the risk of cancer return, even in high-risk patients and locally advanced disease,” Dr. Carcas said. “While we hope, through education, to prevent breast cancer, we know that when it does occur, the earlier it is caught, the better the chance of a cure.”

Talk to your doctor about your risk factors and your need for an annual mammogram or other diagnostic testing, and if you have a family history of breast cancer, discuss the benefits of genetic testing.