If you’ve heard of the BRCA1 and BRCA2 gene mutations, you likely have Angelina Jolie to thank. BRCA1 and BRCA2 were first identified a little more than 25 years ago, but awareness of the mutations has exploded only in recent years. A look at Google Trends shows that search interest for the term “BRCA mutation” nearly quadrupled between 2004 and present day. Interest peaked in May 2013, which happens to be the same month Jolie announced she had undergone a preventive double mastectomy after being diagnosed with the BRCA1 gene mutation.
Despite this spike in awareness, though, many misconceptions still surround the BRCA gene mutations, according to Eleanor Griffith, a certified genetic counselor and founder of Grey Genetics. While more people have heard of the BRCA mutations and how they increase the risk of certain cancers, they don’t necessarily know who is susceptible to the mutations, how to get tested and what to do with a confirmed diagnosis.
Defining the BRCA1 & BRCA2 mutations
To start, let’s clarify: The mere presence of BRCA1 and BRCA2 genes is nothing to worry about. In fact, they’re the good guys. The two genes, which everyone has, play an important role in suppressing cancer and other diseases. Rather, the presence of BRCA1 and BRCA2 mutations is cause for concern.
“Mutations, or pathogenic—harmful—variants in genes keep them from working normally,” Griffith said. “In the case of the BRCA1 and BRCA2 genes, pathogenic variants confer an increased risk for several types of cancer.”
Griffith noted there is a slight difference in the estimated risks for cancer with pathogenic variants in BRCA1 versus BRCA2. “But they’re similar enough that they are