What are the genetic tests used to assess breast cancer risk?

What are the genetic tests used to assess breast cancer risk?

There are several genetic tests used to assess breast cancer risk, primarily focusing on the analysis of specific genes associated with an increased likelihood of developing the disease. Some of the most common genetic tests for breast cancer risk include:

  1. BRCA1 and BRCA2 testing: These tests analyze the BRCA1 (Breast Cancer gene 1) and BRCA2 (Breast Cancer gene 2) genes, which, when mutated, significantly increase the risk of breast and ovarian cancers in women, as well as breast and prostate cancers in men.
  2. Multi-gene panel testing: This type of testing examines multiple genes simultaneously, including BRCA1 and BRCA2, as well as other genes linked to an increased risk of breast cancer, such as TP53, PALB2, PTEN, and CHEK2. Multi-gene panel testing can provide a more comprehensive assessment of an individual’s breast cancer risk.
  3. Whole exome sequencing: This test focuses on the protein-coding regions of an individual’s genome, called the exome. By sequencing the exome, it is possible to identify known and potentially novel genetic variants associated with breast cancer risk. Whole exome sequencing is more targeted than whole genome sequencing and can be more cost-effective, but it still may not be routinely used for breast cancer risk assessment in public healthcare systems. However, with Eiira Classic genetic profile service, we provide you the option to use this type of test. 
  4. Whole genome sequencing: This test involves sequencing an individual’s entire genome, allowing for the identification of known and potentially unknown genetic variants associated with breast cancer risk. However, this method is more complex, costly, and not routinely used for breast cancer risk assessment in the public healthcare system. With Eiira Premium genetic profile service, you have the option to take full advantage of the technology. Without taking another test, you can stay updated on new discoveries of gene mutations.

It is essential to consider that genetic testing for breast cancer risk has limitations and should be discussed with a genetic counselor or healthcare professional, in particular, if you have a family cancer history and if you have any cancer mutations. They can help individuals understand the implications, benefits, and limitations of these tests and make informed decisions about their screening, prevention, and treatment options.


  1. National Cancer Institute. Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version. Available at: https://www.cancer.gov/about-cancer/causes-prevention/genetics/breast-and-ovarian-professional. Accessed on March 31, 2023.
  2. American Cancer Society. Can breast cancer be inherited? Available at: https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-inherited-risk.html. Accessed on March 31, 2023.
  3. Swedish Regional Cancer Center https://kunskapsbanken.cancercentrum.se/diagnoser/brostcancer/vardprogram/arftlig-brostcancer/. Accessed on March 31, 2023.