Genetic Testing for Breast Cancer

Learn more about BRCA gene testing, including recommended guidelines and potential benefits

This photo of a DNA strand represents a type of genetic testing called BRCA testing, which helps identify women who have a higher risk of breast cancer.

Learn more about BRCA gene testing, including recommended guidelines and potential benefits

American women have a one-in-eight chance of developing breast cancer. Mammograms have long been the gold standard of breast cancer detection, but in recent years, testing for BRCA1 and BRCA2 gene mutations have taken center stage. Experts caution that genetic testing is not a one-size-fits-all approach, but it can alert doctors that a patient will require closer monitoring. 


“While some women feel that testing will help plan their lives, others feel that it will create unnecessary anxiety,” says Ayemoethu Ma, MD, a Scripps Clinic breast care surgeon at Scripps MD Anderson Cancer Center. “It is a personal decision.” 


Below, Dr. Ma answers some frequently asked questions about genetic testing.

What are BRCA1 and BRCA2 genes?

BRCA1 and BRCA2 are tumor suppressor genes that can help prevent irregular cells from growing. But when they themselves are mutated, they cannot do their job properly. As a result, tumors cells can grow. A BRCA1 or 2 mutation can be hereditary or can be caused by environmental reasons.

Who should consider BRCA testing for breast cancer?

We normally recommend testing for patients who are at higher risk to have a BRCA1 or 2 mutation. We think people who are most likely to have gene mutations are those who have had cancer at a young age, have family members with breast or related cancers, multiple cancers, male breast cancers or are known to have gene mutation in their family.


Generally, patients should get counseling if they fit any of the criteria, but tested only if they are willing to do something with the results. That may mean lifestyle changes, frequent screening or preventive surgery. 


See our recommended guidelines for BRCA 1 and 2 testing below. If you select any of these risk factors, you should consider testing.

How is BRCA1 or BRCA2 gene testing performed?

It’s either a blood or saliva test — both are adequate.

What does a positive BRCA1 or BRCA2 test result mean?

It means there is a gene mutation that may make a woman more prone to cancer. It doesn’t mean that she is 100 percent going to get cancer. Inversely, a negative result isn’t a guarantee she will never get cancer. Currently, only about 10 percent of breast cancers are attributed to gene mutation.


Environmental factors also contribute to cancer, so even with a negative result, regular mammograms are recommended. For cancer patients with the mutation, prophylactic mastectomy and/or oophorectomy (removing one or both ovaries) can prevent additional cancers. Additional cancer treatments are known to be more effective in gene mutation patients.

What are the benefits of BRCA1 and BRCA2 genetic testing?

For many patients with the mutation, more preventive measures will be taken, which can result in living longer. It’s recommended that women with the BRCA1 or 2 mutation undergo screening every six months rather than every year, and incorporate MRIs. It can also alert other family members that they could be at risk for cancer. Genetic testing can influence a woman’s decision on when to have kids, or prompt healthy lifestyle changes. 


For others who have a family history of cancer, but did not inherit the BRCA1 or 2 mutation, the benefit is peace of mind.

Recommended guidelines for BRCA testing

Use the following guidelines when considering BRCA testing.


If you have had breast cancer, you are a candidate for BRCA testing if any one of these criteria applies to you:


  • You were diagnosed before age 50
  • You were diagnosed with triple negative breast cancer before or at age 60
  • You have Ashkenazi Jewish ancestry
  • You are male
  • You’ve had two or more primary breast cancers
  • You have a history of ovarian/perinatal/Fallopian cancer
  • Two or more relatives on the same side of your family had breast and/or pancreatic cancer
  • A family member had breast cancer before or at age 50


If you have not had breast cancer, you should consider BRCA testing if any one of these criteria applies to you:


  • You have an Ashkenazi Jewish relative with breast cancer
  • You are a first- or second-degree relative with breast cancer before or at age 45
  • You have a single family member with two or more breast cancers
  • You have two or more relatives on the same side of the family with breast and/or pancreatic cancer
  • You have a family history of ovarian/perinatal/Fallopian cancer


If you have additional questions about your potential risk for developing breast cancer, or BRCA gene testing, talk to your primary care doctor.

The cover of the March issue of San Diego Health magazine shows jockey and Scripps patient, Victor Espinoza.

This content appeared in San Diego Health, a publication in partnership between Scripps and San Diego Magazine that celebrates the healthy spirit of San Diego.