March 03, 2017
2 min read

Should all women undergo BRCA1 or BRCA2 testing?

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Only women with a family history of breast, ovarian, fallopian tube or peritoneal cancer should undergo testing for BRCA1 and BRCA2 mutations, according to the U.S. Preventive Services Task Force.

BRCA gene inheritance

Several groups are at increased risk for BRCA1 or BRCA2 gene mutations. They include women of Ashkenazi Jewish ancestry, those who have had a family member with primary types of BRCA1- or BRCA2-related cancers, women who have a family member with ovarian and/or breast cancer, those diagnosed with breast cancer prior to age 50 years, women who have had cancer in both breasts and those who have cases of male breast cancer in their families.

BRCA gene inheritance occurs in an autosomal dominant manner, where most individuals inherit a BRCA1 or BRCA2 pathogenic variant from their parent. However, not all individuals who have a BRCA1 or BRCA2 variant have a parent who has had cancer. Children who are born to a parent with a BRCA1 or BRCA2 germline pathogenic variant have a 50% increased risk of inheriting the pathogenic variant.  

BRCA testing guidelines

Physicians currently use family history screening measures to help identify patients with an increased likelihood of having a BRCA1 or BRCA2 gene mutation.

BRCA testing guidelines recommend that individuals with a family history indicative of a BRCA mutation must first have a family member with cancer undergo testing. Other family members should receive genetic counseling only when their family member with cancer tests positive for a BRCA mutation. BRCA testing guidelines do not recommend genetic testing for children, as the risk for having a BRCA mutation is significantly low in children.

BRCA test kit and cost

Many individuals with close relatives who had breast or ovarian cancer early in life want to know if they are carriers of a BRCA gene mutation. In the medical setting, genetic test kits have been used to identify these gene variations. Results of these types of tests are confidential; it is recommended that the implications be explained by genetic counselors.

Direct-to-consumer genetic test kits are commercially available for individuals who may be curious about their risk for different disorders, but are not at high-risk for disease. While some direct-to-consumer genetic tests require a physician’s prescription, many can be purchased on the internet without a prescription. BRCA test kits that are sold in this manner may cost hundreds of dollars and are not covered by insurance, whereas a face-to-face counseling session with a medical professional may be more tailored to the individual, more informative and cost is more likely to be covered by health insurance.   

Additional information may be found at these websites: