Science News: New Findings for Breast Cancer Genetic Screening

Photo: This undated fluorescence-colored microscope image made available by the National Institutes of Health in Sept. 2016 shows a culture of human breast cancer cells. Ewa Krawczyk / National Cancer Institute via AP

Photo: This undated fluorescence-colored microscope image made available by the National Institutes of Health in Sept. 2016 shows a culture of human breast cancer cells. Ewa Krawczyk / National Cancer Institute via AP

Early detection of breast cancer, as well as genetic screening for the breast cancer gene, are two critical advancements in preventive medicine and women’s health. You’ve probably heard of the BRCA gene, but do you know what screening for this gene means? Here’s what the current breast cancer genetic screening standards say, plus what the findings of a new study on the topic suggest for preventive screening moving forward.

Current standards in genetic breast cancer screening

The BRCA gene test is the most current evidence-based screening available for women concerned about their risk for breast cancer. The test looks for mutations in BRCA1 and BRCA2, also known as the breast cancer susceptibility genes.

People who have mutations of these genes are statistically at a higher risk for developing breast cancer and ovarian cancer in their lifetime compared to the average person. However, most cases of breast cancer are not caused by genetic mutations. BRCA mutations account for 5% to 10% of breast cancers and 15% of ovarian cancers.

The BRCA gene test isn’t usually recommended or performed unless you have a reason to suspect a higher risk for breast or ovarian cancer. For instance, a woman with a family member who had either of these diseases is considered to have a higher risk for inherited BRCA genetic mutations and would be a candidate for the screening.

Currently, guidelines from the US Preventive Services Task Force (USPSTF) have doctors screen women with family histories of BRCA-related cancers and refer them to genetic counselors.

If you have a family member with one of these diseases who is still alive and has not been tested, it might make the most sense for her to be tested first to see if she carries the BRCA gene. If not, testing may not be recommended for you under current testing standards.

If the BRCA genetic test returns positive results: This means that you have a genetic mutation that increases your risk for breast or ovarian cancer in your lifetime.

If the BRCA genetic test returns negative results: This means that you do not carry the genetic mutation that would increase your risk for breast or ovarian cancer. However, it could also mean that you have another genetic mutation that isn’t discoverable yet, or the test could return results that indicate a different genetic mutation.

In either case, you will work with your doctor to explore options to reduce your risk for these diseases. 

Although this is the standard approach, some new findings have suggested changes to the guidelines. 

 
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New breast cancer genetic testing findings and recommendations 

New research published in JAMA in 2019 asked the question of whether the standard recommendations for genetic breast cancer screening should be expanded upon, or if it didn’t make financial sense. 

The study compared risk outcomes between women with breast cancer who received unselected BRCA1/BRCA2/PALB2 testing, and women with breast cancer who had a family history of breast cancer and had standard BRCA testing.

The researchers looked at data from nearly 12,000 women, finding that BRCA testing upon breast cancer diagnosis was significantly more cost-effective than performing the standard BRCA1/BRCA2 testing based on family history. Changes in testing also proved to be markedly better for patient health outcomes.

Results showed that high-risk multi-gene testing for all women with breast cancer had a significant cost advantage over standard genetic BRCA testing. It also showed a significant improvement in health outcomes.

In fact, the researchers stated that “one year’s unselected panel genetic testing could prevent 2,101 cases of breast or ovarian cancer and 633 deaths in the United Kingdom and 9,733 cases and 2,406 deaths in the United States.”

The study concluded that current policies should expand genetic testing to all women who have breast cancer.

If you are concerned about your breast cancer risk, talk to your doctor at your annual well-woman visit or sooner if you feel any suspicious changes in your breasts during your monthly self-examinations.

Join the conversation about women’s health before, during, and after menopause, including health conditions like breast cancer, over at Lisa Health