Jill Martin, a television personality, recently took the opportunity to discuss her personal experience with breast cancer on “Football Night in America.” She emphasized the importance of genetic testing for those who are at high risk for the disease, particularly those with a family history of breast cancer. Jill revealed that she was diagnosed with Stage 2 breast cancer last year, after discovering a mutation in one of her BRCA genes. Despite having clear mammograms and sonograms, her cancer was only detected during an MRI scheduled for preventive surgery following the genetic testing.
The Basser Center for BRCA estimates that 25 million people worldwide have a BRCA mutation, with only 10% of them being aware of it. Having a BRCA mutation can significantly increase a person’s risk of developing breast cancer by up to 75%, as well as increasing the risk of other cancers such as ovarian, prostate, and pancreatic. Knowing whether you have a gene mutation that increases your risk of breast cancer can help you make informed decisions about preventive measures and guide your treatment if you are diagnosed with breast cancer. It can also help inform other family members about their risk.
Dr. Susan Domchek, the executive director of the Basser Center for BRCA, recommends genetic testing for breast cancer for individuals with a personal or family history that includes early-onset breast cancer, ovarian cancer, pancreatic cancer, metastatic breast cancer, or Ashkenazi Jewish descent. Additionally, individuals with a significant family history of cancer should also consider talking to a healthcare provider about whether genetic testing is appropriate for them. These recommendations apply to both men and women, as a BRCA mutation in men can also increase the risk of developing breast cancer, prostate cancer, pancreatic cancer, and melanoma.
There are multiple ways to undergo genetic testing for breast cancer, with the guidance of a healthcare provider being ideal. Individuals can ask their primary care provider about genetic testing, or seek out a genetic counselor directly. Many designated cancer centers have genetic counselors on staff, and the National Society for Genetic Counselors also has a database to help individuals find a genetic counselor near them. Additionally, many insurance companies cover genetic testing when recommended by a healthcare provider, so individuals should contact their insurance company to learn more about their specific policy.
Jill Martin discovered that she carries the BRCA mutation on her father’s side, despite having a family history of breast cancer on her mother’s side. Following her diagnosis, she underwent various treatments including a double mastectomy, removal of her ovaries and fallopian tubes, radiation, and chemotherapy. She is currently taking medications to reduce her risk of recurrence. Jill is grateful for genetic testing, as it helped her make informed decisions about her treatment and take steps to reduce her risk of developing cancer. By sharing her story and raising awareness about genetic testing, Jill hopes to encourage others to undergo testing and take proactive measures to protect their health and potentially save their lives. She believes that if she had not undergone genetic testing and preventive surgery, she may not be alive today.
