Genes and Susceptibility

In the United States, breast cancer is one of the most common types of cancer women develop. It is estimated that nearly every year 250,000 women will be diagnosed with breast cancer and nearly 40,000 will die from it.

Only about 5%-10% of breast cancers are known to be hereditary. In these cases, a specific gene is passed on from parent to child.


Two types of genes most widely connected to breast cancer are the BRCA1 and BRCA2 genes. BRCA1 and BRCA2 stand for BReast CAncer susceptibility 1 and BReast CAncer susceptibility 2 genes. Mutations of these genes can either be neutral (not harmful) or deleterious (harmful). If one’s genes are deleterious, a person’s risk of developing breast or ovarian cancer is increased.


Listed below are some examples of individuals who are at a higher risk of having a deleterious BRCA1 or BRCA2 gene.

  • One or more of your immediate family members has or has had breast or ovarian cancer under the age of 50 years old
  • You are of Ashkenazi Jewish heritage.
  • You are African American and have been diagnosed with breast cancer under the age of 35
  • There are other types of cancer in your family such as pancreatic, thyroid, or colon
  • Personal and/or family history of triple negative breast cancer


Genetic testing can be advantageous for individuals whose families have a history of breast, ovarian, or other gland-related cancers. Prior to getting tested, it is recommended that one meet with a genetic counselor to interpret and discuss a positive or negative result.

Currently, genetic testing is available to test for both the BRCA1 and BRCA2 genes. A blood test is taken and results are available approximately 3-4 weeks after the initial test.


A common misconception is that if you receive a positive test result you will eventually develop breast cancer and if you receive a negative test result you will not develop breast cancer. Testing positive for the BRCA1 or BRCA2 gene means that you are at a higher risk of developing cancer. While individuals who do not carry the BRCA1 or BRCA2 gene have a 12%-13% chance of developing breast cancer in their lifetime, those who do carry the BRCA1 or BRCA2 gene have an 80% of developing breast cancer in their lifetime.


Testing positive for the BRCA1 or BRCA2 gene can be a scary reality. Fortunately, there are a variety of options to help you make an informed decision.

  1. Screening
    • Ensure that you participate in routine mammography, ultrasound, and MRI screenings.
    • Clinical breast examination with a breast specialist.
  2. Prophylactic Surgery
    • This preventative surgery involves removing the breast tissue in order to decrease the risk of breast cancer forming. Prophylactic surgery can decrease a person’s risk of developing breast cancer by 97%.
  3. Preventative Drugs
    • Tamoxifen is a drug that has been tested and has shown to reduce the risk of developing breast cancer by 50% in women.


  1. If under the age of 40, plan to get a baseline mammogram at the age of 40. If over the age of 40, continue to get a yearly mammogram and breast exam.
  2. Be aware of any changes in your breasts and bring your concerns to a health care professional


It is important to know that laws have been instituted to protect individuals from being discriminated against because of their genetic makeup.

The Genetic Information Nondiscrimination Act (GINA) was instituted in 2008 and protects American individuals from being discriminated against by health insurance companies and employers. Under the GINA Act, health insurance companies are prohibited from requesting or requiring individuals to provide genetic information of themselves or family members. GINA also prohibits employers from using genetic information in the hiring, firing, or promotion process.

For more information on the GINA act, please visit:

*Information adapted from the National Breast Cancer Foundation, National Cancer Institute, Breast Cancer .org, The National Human Genome Research Institute

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