What You Need to Know about Genetic Screening for Breast Cancer

By on November 20, 2020

Especially if you have a family member who has had breast cancer, you may have wondered about having genetic testing or genetic counseling to find out your risk. Dr. Stephanie Lam says that “Breast cancer is definitely the number one cancer that will affect women all over the country, and it’s a topic that obviously may be near and dear to many people’s hearts because, most likely, you’ve had a family member affected by this disease.” Below, learn more about genetic testing and routine screening for breast cancer.  

Can Genetic Testing Show a Higher Risk for Breast Cancer? 

Genetic tests can determine if you are at a higher risk for breast cancer. Especially if you have a family history of breast cancer, many women choose to have their genetics tested for markers in the BRCA1 or BRCA2 genes, which indicate a higher risk for developing breast cancer.  

After you and a genetic counselor have determined that it is worthwhile for you to have your genetics tested, you will collect a sample of blood or saliva to be sent to a lab. There, scientists will analyze your DNA and check for certain mutations that indicate an increased risk for breast cancer or other cancers. Most patients receive their results in about three weeks.  

Your results may be positive, meaning you are at an increased risk, negative, meaning you are not at an increased risk, or inconclusive, meaning you have some variation in your genes, but it is unknown whether this increases your risk for developing cancer. After you receive your results, your genetic counselor will again help you understand what their implications are for your health and your best options moving forward.  

What to do if Genetic Tests Show a Higher Risk for Breast Cancer 

If your genetic tests reveal an increased risk for breast cancer, it’s likely that your genetic counselor or doctor will recommend more frequent or earlier breast cancer screenings. Regarding breast cancer, Dr. Stephanie Lam explains that “the earlier that we identify it and the earlier that we find it, you really will do well. Breast cancer is treatable, and your chances for a positive outcome dramatically increase if it is diagnosed early. However, remember that BRCA1 and BRCA2 mutations do not guarantee that you will get breast cancer; you are at an increased risk, but breast cancer is not inevitable for you.  

How Does Breast Cancer Screening Work? 

The first stage of breast cancer screening is a breast exam, which is part of a routine appointment with your OB/GYN. “That breast exam is a screening tool for us to help look for and identify breast cancer, or lumps or bumps that may be precancerous,” Dr. Lam explains. After age 40, women also have a regular mammogram, which can help to detect or diagnose breast cancer. However, if your genetic testing shows you’re at an increased risk, your doctor may recommend earlier mammograms.  

In addition to mammograms, ultrasound tests can help detect texture to see cysts or solid tumors to more accurately diagnose. Dr. Lam explains that the majority of lumps are noncancerous. However, she also reassures patients that “if one of these tests do come back suspicious for cancer and we do biopsy you and the diagnosis does come back as breast cancer, the good news is that breast cancer is one of the most treatable and curable cancers.”  

Schedule an Appointment  

If you have a family history of cancer and wish to pursue genetic testing, or if you have questions about genetic cancer screening or breast cancer screening, schedule an appointment with Maternal Fetal Medicine Associates. Call our New York office at (212) 235-1335 or contact us online.  

Maternal Fetal Medicine blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!