BRCA Genetic Test

The BRCA genetic test is a type of genetic testing that identifies mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast, ovarian, and other cancers.

What do the BRCA genes do?

The BRCA1 and BRCA2 genes are tumor suppressor genes that help repair damaged DNA. When either of these genes is mutated, or altered, DNA damage may not be properly repaired, leading to an increased risk of cancer.

Who should consider getting a BRCA genetic test?

The following individuals may benefit from BRCA genetic testing:

• Women with a personal history of breast or ovarian cancer
• Women with a family history of breast, ovarian, or other cancers, particularly if the cancers occurred at a young age
• Individuals of Ashkenazi Jewish descent, as they are more likely to carry BRCA mutations
• Men with a personal or family history of breast cancer

How is the test performed?

A blood sample is typically used for BRCA genetic testing. The sample is sent to a laboratory, where it is analyzed for mutations in the BRCA1 and BRCA2 genes.

What are the possible results of a BRCA genetic test?

There are three possible results:

• Positive result: A mutation in one of the BRCA genes is detected, indicating an increased risk of cancer.
• Negative result: No mutation is detected in either BRCA gene. However, this does not guarantee that an individual will not develop cancer.
• Variant of uncertain significance (VUS): A genetic change is detected, but it is unclear whether it increases the risk of cancer.

What are the implications of a positive BRCA test result?

A positive result may lead to:

• Increased surveillance for breast and ovarian cancers, such as more frequent mammograms and ultrasounds
• Risk-reducing surgeries, such as mastectomy or salpingo-oophorectomy (removal of the ovaries and fallopian tubes)
• Chemoprevention, which involves taking medications to reduce the risk of cancer

What are the limitations and risks of BRCA genetic testing?

BRCA genetic testing is not perfect and has some limitations:

• It may not detect all mutations in the BRCA genes
• A negative result does not guarantee that an individual will not develop cancer
• There may be emotional or psychological consequences associated with receiving a positive test result
• Genetic testing may raise concerns about insurance coverage and employment discrimination

Regulation and accreditation of BRCA genetic testing

In the United States, BRCA genetic testing is regulated by the Clinical Laboratory Improvement Amendments (CLIA) and accredited by organizations such as the College of American Pathologists (CAP) or The Joint Commission.