Testing for Breast Cancer Genes

 BRCA gene test detect the genetic mutations causing breast cancer.

Gunjan Rastogi
MiscellaneousWritten by: Gunjan RastogiPublished at: Oct 15, 2012
Testing for Breast Cancer Genes

Testing for Breast Cancer Genes

If you have genetic history of breast cancer, you are predisposed to the risk of inheriting it through altered genes. Testing of your genes aims to detect the altered genes, if you have any, to learn your increased susceptibility to breast cancer. This warns you against the breast cancer risk in advance, thereby, helping you to take all the preventive measures.  


[Read: Common Risk Factors for Breast Cancer]


The test which can determine your breast cancer risk in advance to prevent its occurrence is breast cancer (BRCA) gene test, which has been discussed here in detail.

Breast Cancer (BRCA) Gene Test: is a blood test which detects specific changes called BRCA1 and BRCA2 in genes, however, it is important to note that BRCA is not a diagnostic test for cancer. BRCA gene test is conducted only if an individual has family history of breast cancer.


BRCA1 and BRCA2: A woman is at an increased risk of breast and ovarian cancer if BRCA1 and BRCA2 mutations are seen in her genes. These genetic changes can be inherited from either of maternal or paternal family.

BRCA1 and BRCA2 Carriers

  • Ashkenazi Jewish women are at an elevated risk of being BRCA carriers. These women are advised to take BRCA gene test if they have any of the following conditions— if anyone from their first-degree relatives— parents, siblings and cousins children has had breast or ovarian cancer before or at 50 or if any two people from your second-degree relatives i.e. uncles, aunts, cousins, grandparents, nephew and nieces have been diagnosed with breast or ovarian cancer.
  • Even if you are not Ashkenazi Jewish, go for BRCA gene testing to detect your increased risk of breast cancer if two or more of your first and second-degree relatives were diagnosed with breast and ovarian cancer at any age.
  • If you have family history of both breast and ovarian cancer.
  • If you have a first-degree relative with cancer in both breasts.
  • If you two or more relatives (either of first or second degree) with ovarian cancer.
  • If a same relative has suffered from both breast and ovarian cancer.
  • If you have a male relative with breast cancer. 


[Read: How to Detect Breast Cancer in Men]


Result of BRCA Gene Testing

Positive: This doesn’t mean that you have breast cancer. A positive result of BRCA1 and BRCA 2 mutation points that you have more than average risk of developing breast cancer over the course of your lifetime.


Negative: In spite of family history of breast cancer, BRCA 1 and BRCA 2 changes haven’t affected your genetic pattern, and you are at the same risk of breast cancer as general population.


BRCA genetic testing does not show all your risk factors of breast cancer.  Apart from BRCA gene changes, other factors, such as your lifestyle practices contribute to higher risk of breast cancer.

Read more articles on Breast Cancer Diagnosis and Prognosis.