Both Genetic Testing and Family Communication Are Important
- Before Actress Olivia Munn, 44, learned she had breast cancer, she had taken a thorough genetic testing assessment. It all came back negative, meaning she didn’t have the genetic mutations putting her at higher risk for getting cancer. However, your family history is different and you can still have increased risk based on your health history regardless of genetic testing.
- A new study published in the Journal of Clinical Oncology shows there is still a lack of breast cancer patients getting the proper testing. Out of the breast cancer survivors surveyed (aged 20-79 and diagnosed with early-stage breast cancer in 2014-2015), a total of 47% total “had indications for genetic testing at any time.”
- The number of women in the study who had communicated risk with family was much higher, which is positive, but the study stresses the importance of more awareness needed on assessing risk from all angles, not to mention the importance of genetic testing steering breast cancer treatment plans.
However, your family history is different and you can still have increased risk based on your health history regardless of genetic testing. It is still, however, highly important to check, as that sort of precision testing can help steer your specific treatment plan.
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This shows that family communication is crucial when navigating health decisions and determining your true risk, along with educating yourself and getting multiple opinions from doctors.
Most women would not pursue any further testing after a normal mammogram and favorable genetic testing results.
Learning More About Breast Risk Assessment & Genetic Testing
The Breast Cancer Risk Assessment Munn credits for catching her breast cancer is a “statistical model that allows healthcare professionals to calculate the probability of a woman developing breast cancer over the course of their lifetime,” Dr. Ruth Oratz, breast medical oncologist, NYU Langone Health’s Perlmutter Cancer Center; clinical professor of medicine, NYU Grossman School of Medicine explained to SurvivorNet.
As for genetic testing, it can be as simple as a simple saliva swab or blood sample. The results help your care team determine if you have a specific mutation that puts you at higher risk for cancer. Additionally, genetic testing aids doctors in tailoring your specific treatment, therefore very helpful for breast cancer patients.
BRCA Gene Mutations
When Olivia Munn said she “tested negative for all [different cancer genes], including BRCA,” she was referring to the BRCA1 and BRCA2 gene mutations, which are among the most important genes to look for in breast cancer.
How Testing For BRCA In Breast Cancer Works
Together, they are responsible for about half of all hereditary breast cancers. These genes prevent cells from dividing haphazardly and uncontrollably in a person without mutations. Mutations prevent these genes from doing their job and can allow unchecked growth of breast, ovarian, and other tissues.
Dr. Oratz says if the Breast Cancer Risk Assessment finds that a woman is at higher risk of getting breast cancer, she should expect further testing and screening. However, if a woman is positive for the BRCA gene mutation, a Breast Cancer Risk Assessment “is not really accurate.”
“Having information empowers patients,” Dr. Oratz added. “It is very important for people to be aware of the health risks, their family history, and their own personal medical conditions. All of these things can affect the risk of developing cancer.”
According to the National Cancer Institute, about “13% of women” in the general population will develop breast cancer sometime during their lives. By contrast, 55% to 72% of women who inherit a harmful BRCA1 or BRACA2 variant will develop breast cancer by 70 to 80 years of age.
Major Advancements for Breast Cancer Patients – Learning More About the Benefits of Genetic Mutation Research
New research indicates that a drug called Inavolisib is effective at treating a type of metastatic breast cancer with a common mutation known as PIK3CA.
The study, presented at this year’s American Society of Clinical Oncology (ASCO) cancer research conference, led the Food and Drug Administration (FDA) to grant breakthrough designation for the drug — and it’s expected to get full approval later this year.
This is great news as about 40% of women who have hormone receptor-positive metastatic breast cancers have the PIK3CA mutation — and research indicates adding the drug to the treatment plan can double the time women go without their cancer progressing.
“We went from 7.3 months to 15 months, so that’s more than doubling of that time without disease progression. But that’s not all,” Dr. Dejan Juric, Medical Oncologist at Mass General Cancer Center, and Assistant Professor of Medicine at Harvard Medical School, told SurvivorNet.
Important Testing in Precision Medicine
“We also saw that patients have less pain and actually the deterioration in those parameters [are better]. Can the patients actually maintain the quality of life? Can they maintain their daily functionings? And we were able to see that all those parameters actually stay stable,” Dr. Juric added.
Breast cancer treatment has seen significant advancements in recent years with the introduction of innovative therapies — and Inavolisib has emerged as a key contributor in this evolution.
Don’t delay getting genetic testing, as it is so important to your overall health.
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