Genetic Testing for Early Detection of Breast Cancer Critical
By Dan Murphy
Last month, Mount Sinai Health System launched a comprehensive BRCA Program for Men and Women. Ashley Tsang, MD, Breast Surgeon, Mount Sinai Doctors-Westchester, and an Assistant Professor of Surgery at the Icahn School of Medicine, explained the program and how genetics plays a role in the likelihood, detection, and prevention of breast cancer.
According to the American Cancer Society, the average risk of a woman in the United States developing breast cancer sometime in her life is about 12.5%. This percentage has stayed the same over the decades, but with screenings and early detections, the medical community has been able to catch it earlier and save lives and avoid advanced stages.
A smaller percentage of women who have breast cancer also have a genetic or hereditary predisposition for cancer, through the BRCA genes, 1 and 2. BRCA1 and BRCA2 are two genes that are important to fighting cancer. They are tumor suppressor genes. When they work normally, these genes help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way.
Dr. Tsang explained that in more than 90% of breast cancer patients, there is no genetic or hereditary cause. But for the 5 to 10% of cases that are due to a genetic mutation, genetic panel testing, which includes the BRCA gene as early as possible is a new recommendation, especially for patients that have a family history of cancer.
“BRCA genes are associated with a 60%-70% likelihood of breast cancer over a patient’s lifetime. That’s compared with only 12.5% of all women having a likelihood of breast cancer. That’s why it’s important for our patients to get tested for the BRCA gene, to see if they are high risk for breast cancer, or if their cancer is associated with the gene since a mutation in this gene is also associated with an increased risk of cancer in the ovaries, prostate, pancreas, and skin.
“The key is to find out early through testing, and then we can offer risk reducing treatments. We can reduce the risk of developing breast cancer by up to 90% with risk reducing surgery, so the earlier women with a strong family history get tested, the better the chances are to prevent developing cancer,” said Dr. Tsang.
When a patient presents with a strong family history of breast or ovarian cancer, especially in first degree relatives, genetic panel testing is recommended. “Before 2013, we only tested for BRCA 1 and 2 because those were the most well know breast cancer associated genes. After 2013, more companies were able to offer genetic testing, and we now test for 8 breast cancer associated genes,” said Dr. Tsang.
Mount Sinai’s Comprehensive BRCA program is targeted towards patients who have already been tested and carry a mutation in the BRCA 1 or 2 gene. Learning that you have a genetic mutation that increases your risk of cancer can be overwhelming. Men and women who carry genes that increase the risk of breast cancer want state-of-the-art, compassionate care. The experts at The Mount Sinai’s Comprehensive BRCA Program offer just that, and provide comprehensive care tailored to your needs and those of your family. Genetic testing can be coordinated for patients who have not had prior testing.
“Our program is focused on BRCA 1 and 2 because they are the most likely to come back positive. The other non-BRCA genes are positive only 10% of the time for the 5%-10% of patients who are high risk.”
Dr. Tsang explained that the primary reason for genetic testing is “if there is a strong family history for breast or ovarian cancer. If that is the case, we recommend that you see your primary care doctor or gynecologist and ask about testing. These genes are passed down from your family.”
How will Mount Sinai’s Comprehensive BRCA Program save lives? “These risk reducing strategies can reduce cancer by 90%. That alone saves lives.”
Dr. Tsang said that she refers patients to other physicians when they are found to carry a mutation in the BRCA 1 or 2 genes. “The BRCA gene is also associated with ovarian cancer, prostate cancer, pancreatic cancer and melanoma, as well as breast cancer in men. I refer female patients to a gynecologist so that they can discuss ovarian cancer screening, and potentially risk reducing removal of the ovaries. I may also refer patients to see a gastroenterologist for an endoscopic ultrasound to screen for pancreatic cancer if there is a strong family history. And for melanoma prevention, we refer to a dermatologist for an annual skin exam.”
Dr. Tsang added that more and more patients are interested in “wanting to know their genetic history and that’s a good thing. The most important part of this program is that it empowers patients with the knowledge about their cancer risk and be able to do something about it. If one of my patients tests positive, I do encourage all their family members to get tested, both men and women.”
“I encourage men with a history of cancer in their families to get tested as some genes are associated with prostate cancer, pancreatic cancer, colon cancer and melanoma. Men can get breast cancer, too,” said Dr. Tsang.
For those with a BRCA mutation that want to learn more about Mount Sinai’s comprehensive BRCA program, please visit https://mountsinai.formstack.com/forms/brca_mutation, to go through a questionnaire.
Ashley T. Tsang, MD is a board certified, fellowship-trained breast surgeon from Stanford School of Medicine, specializing in the treatment of benign and malignant diseases of the breast and management of patients at high risk for breast cancer. Dr. Tsang is Assistant Professor of Surgery at Icahn School of Medicine at Mount Sinai, a Diplomate of the American Board of Surgery, and a member of the Society of Surgical Oncology and the American Society of Breast Surgeons.
Dr. Tsang has offices at Mount Sinai Doctors-Westchester in Scarsdale, 341 Central Park Avenue, (914)-370-5000 and at Mount Sinai Morningside in Manhattan, 1090 Amsterdam Avenue, Suite 10A (212)-523-5222. Visit https://www.mountsinai.org/locations/westchester for more information.
