What are the ‘breast cancer genes’?

Testing to see if you have a gene that could lead to breast cancer in the future is certainly a scary thought. Fortunately, these tests also allow you and your care team to make informed and proactive decisions.  

When people refer to breast cancer genetic testing, they are usually referring to two genes in particular: BRCA1 and BRCA2. Both genes fall under the “tumor suppressor” category, which means they prevent cells from dividing too rapidly and help repair damaged DNA in cells. When these genes stop working properly, it can lead to cancer.

“BRCA1 and BRCA2 are some of the most known genetic mutations associated with an elevated risk of breast cancer,” says Dr. Celeste Cruz, a breast cancer surgeon at Advocate Health Care. “However, there are additional genes linked with an increased risk. Among them include: PALB2, CHEK2, ATM, TP53, PTEN and CDH1. A comprehensive evaluation is recommended to create an individualized care plan for patients.” 

What’s the difference between BRAC1 and BRAC2? 

BRCA1 mutations can specifically increase your risk of cervical, uterine and colon cancer along with being associated with the development of triple-negative breast cancer. BRCA2 mutations can increase your risk of developing stomach, gallbladder and bile duct cancer. Both mutations increase the risk of ovarian and prostate cancer. 

You might be at risk for BRCA1 and BRCA2 mutations and a candidate for testing if: 

• You have family history of breast, ovarian or prostate cancer in multiple relatives on the same side of the family or any member with pancreatic cancer 
• A family history of breast cancer diagnosed before the age of 45 
• A family member diagnosed with cancer in both breasts 
• A male relative diagnosed with breast cancer 
• You have Ashkenazi Jewish (Eastern European) ancestry and also have a family history of breast cancer 

Testing for the BRCA1 and BRCA2 requires a sample of your blood, saliva or cells from the inside of your cheek to check for possible changes in those genes. It’s important to note that testing positive does not mean you will develop cancer, it simply identifies if you have the harmful gene variant that can increase the risk of certain cancers. 

“Being referred to a high-risk breast cancer clinic is important for determining the necessity of genetic testing and counseling,” says Dr. Cruz. “Once a patient is referred to the clinic, the care team will make an individualized plan that meets their health needs.” 

Want to learn more about your risk for breast cancer? Take a free online quiz.