Understanding BRCA1 and BRCA2 Mutation Genes: Risk, Prevention, and Moving Forward

The Importance of Getting Tested for Mutated BRCA1/2 Genes

BRCA1 and BRCA2 are harmful genetic mutations of the common BRCA inherited gene that can cause serious issues, such as breast or ovarian cancer. It is important to provide a clear overview regarding the different proactive or reactive steps one can take if found positive for one of these particular gene mutations.

The BRCA (BRCA stands for Breast Cancer) genes in and of themselves are not worrisome—they actually are designed to help prevent cancer in most people. However, when the genes are broken or damaged, this can lead to mutated genes, which means that there is a higher chance of the development of breast or ovarian cancer. Therefore, it is important to understand the risks associated with the mutation and to get tested so as to be able to make as informed a decision as possible.

Understanding Risk

The risk for any woman increases if she inherits the mutated BRCA1/2 gene. However, the degree of increased risk varies depending on the type of mutation and a number of other factors. Some of these have not yet been fully identified. Nevertheless, it is important to keep in mind that:

  • Roughly 13% of women will develop breast cancer at some point in their lives
  • One in 400 people (or 0.25%) have the mutated BRCA1/2
  • More than 90% of women diagnosed with breast cancer have one of these particular mutations
  • 55%-72% of women who inherit a mutated BRCA1 variant and 45%-69% of women who inherit a harmful BRCA2 variant will develop breast cancer by 70–80 years of age
Northern Charitable Foundation - Alex Dembitzer - cancer and genetics
Pink breast cancer awareness ribbon against medical student smiling at the camera during class

Founder mutations, or a harmful variant of one of these two mutated genes, affect particular populations more aggressively. For example, roughly 2% the Ashkenazi Jewish population carries a variant of the mutation. Other populations more affected by founder mutations include Norwegian, Dutch, Icelandic, and Eastern European peoples.

Lastly, particular racial/ethnic and geographic populations tend to carry different variants of these genes altogether. For example, it has been found that African Americans have a BRCA1 variant that is not seen in other racial/ethnic groups across the United States.

Proactive Measures

It is worth looking into genetic counseling and/or genetic testing for a more personalized approach with regard to these mutations.

Consider genetic counseling prior to genetic testing if you have:

  • Prevalence in your family history of breast or ovarian cancer
  • Personal history of cancer
  • Knowledge that a BRCA1/2 mutation exists in family

Genetic counseling after testing can be beneficial if you:

  • Have tested positive for the mutated gene
  • Are searching for treatment options
  • Have a family member who needs support
  • Require testing for immediate family members

It is important to note, however, that genetic testing is unfortunately not the most reliable way to detect breast or ovarian cancers in those without the inherited gene. There are still just under 10% of women diagnosed with breast cancer who do not actually have one of these particular mutations. Equally as important, many families with a history of prevalent of breast/ovarian cancer have not tested positive for the mutated genes yet have cancer. While testing for these mutated inherited genes is important, it is still not the be-all-end-all of cancer awareness.

Northern Charitable Foundation - Alex Dembitzer - cancer and genetics
Woman scientist looking thoughtfully at DNA molecule image at media screen

What Does This Mean For the Next Generation?

With the advancement of science over the past two decades, pre-implantation genetic testing (PGT-M) is a process that works alongside IVF. This test ensures that only the non-BCRA mutated gene embryos are chosen for pregnancy. Of all assisted pregnancies in the US in 2018, 27% of them used PGT-M. It is a way of having the gene removed for the next generation, thus lowering the risk of breast and ovarian cancers.

Moving Forward

Knowledge is power when discussing BRCA1/2 mutated genes. It is important to understand the risk factors involved and to consult a professional for counseling or testing, if necessary.

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