According to the American Cancer Society, 2,190 Nevada females will be diagnosed with breast cancer in 2019. This marks a slight increase year after year. Nationally, there has been a gradual, projected rise in new cases as well, with incidence rates increasing by approximately 0.4% in recent times. This is due to better detection at earlier stages with improved screening tools such as digital mammography, specialty 3-D mammograms and MRI screening when indicated.
In the past 10 years, death rates have fallen by approximately 1.9% per year. This is due not only to earlier detection, but also to improved targeted therapy.
Proactive measures are vital in keeping these statistics trending in the right direction and ultimately saving lives. And at the forefront of these measures is genetic testing.
The science and benefits of genetic testing
From the methods to stay ahead of a diagnosis to treating the disease, the breast cancer landscape has evolved in our lifetime. In 2019, we live in a world with minimally invasive techniques, targeted therapies, promising clinical trials and growing evidence of what may affect various types of breast cancer.
When it comes to genetic testing, as it pertains to breast cancer, when we know someone is a gene carrier, or has a higher risk of carrying a harmful genetic mutation, we want to screen them as early as possible. Approximately 10% of cancers are gene-related.
In the realm of breast cancer, there are a number of common mutations that have made their way to the forefront. Perhaps the most common are BRCA1 and BRCA2, genes that produce tumor-suppressant proteins. When these genes are altered or mutated, DNA damage within the body cannot be repaired sufficiently, resulting in cells having a higher likelihood themselves of becoming cancerous. According to the National Cancer Institute, approximately 12% of women (1 in 8) will develop breast cancer in their lifetime. Those with a harmful BRCA1 or BRCA2 mutation are estimated to have an 80% chance of having cancer by age 80.
Additional common mutations include the genes TP53 (or p53), ATM, CDH1 and PTEN, among others.
Methods of genetic testing have evolved over the past few years, becoming more comprehensive and able to test patients for a number of mutations at once. In the past, these tests would test for a few genes; they now check patients for more than 80 possible gene mutations that are associated with syndromes and cancer in the human body.
Patients who had gene testing prior to 2014 should be tested with the newest technology, covering the remainder of genes that we didn’t have the ability to test for previously.
Recommended treatment, whether surgical or a chemotherapy regimen, may vary depending on which gene mutation is detected. For example, those with the TP53 mutation should not be offered radiation because that treatment may actually result in the development of a new type of cancer with their already existing genetic predisposition.
All mutations are not equal across the genetic spectrum. Certain genes present a high risk for developing breast cancer and others are associated with an elevated but not a high risk — these do not equate to a necessary mastectomy. A fully up-to-date list of gene mutations and the cancers associated with them may be accessed on the NCI’s website. National Comprehensive Cancer Network Guidelines recommend prophylactic mastectomies for certain genes, and close follow up and screening with mammograms as well as MRIs for others.
In addition to the common mutations, there are many variants being discovered on seemingly a daily basis. There are databases and registries for these variants that are accessible to the public. In addition to our practice’s efforts to log and track these variants, patients are encouraged to input their information and learn more with databases like PROMPT Registry (promptstudy.info).
There are numerous pros to genetic examinations. First and foremost, if your test comes back negative for potentially harmful mutations, you may have peace of mind and return to a regular screening regimen afterward. I recommend 40 years old to start an annual mammography routine. Mammogram technology has improved drastically in recent times, particularly in dense breast tissue with 3-D tomosynthesis.
If a patient tests positive for a specific gene, we dive deeper with screening scans that apply to the specific cancers associated with that gene. From there, and if there is a positive diagnosis, it’s imperative for the patient’s family (women and men) to have testing as well, as they have a 50/50 chance of carrying that gene.
The cost of testing
The cost of genetic testing has decreased drastically in recent years. In 2013, patent restrictions regarding genetic testing were released and several companies began offering testing. These advances focused on testing large amounts of DNA at once, resulting in a quicker turnaround, lower cost and a less-tedious process for patients.
With enhanced genetics technology and decreasing costs for patients, there has never been a better time to be proactive. Previously, a full genetics test cost somewhere between $4,000 and $5,000. Now, most commercial insurance plans cover genetic testing, but even without insurance, cash-pay price is around $250 for a full gene panel.
Looking ahead
In 2019, the American Society of Breast Surgeons updated its recommendations establishing a new consensus guideline on genetic testing, saying it should be available to any patient with a history of breast cancer. Genetic cancer is becoming more and more accessible and perhaps, eventually, breast cancer can be as commonly screened as diabetes and blood pressure.
Needless to say, this proactive measure of genetic testing is here to stay and should be a part of a routine health screening, in my opinion. So, on that note, there is no time like the present to take action.
Dr. Souzan El-Eid is a breast surgeon at Comprehensive Cancer Centers. She also serves as the medical director of the Breast Care Center and co-chair and co-moderator of the Breast Tumor Board at Summerlin Hospital and is a cancer liaison physician for its cancer program.