Mutations in BRCA1 or BRCA2

    Did you know that BRCA, named for “breast cancer,” is one of our most important tumor suppressor genes? Mutations in BRCA1 or BRCA2 significantly increase the risk of hormone-sensitive cancers—up to an 82 percent lifetime risk of breast cancer. Those odds may seem overwhelming, but there’s more to the story.

     Only about 10 percent of breast cancer cases are hereditary, and of those, only 25 percent are linked to BRCA mutations. So what’s driving the increased cancer risk? Research points to our environment: diet, stress, toxic exposures, and lifestyle choices. Here’s the fascinating part: Before 1940, the risk of developing breast cancer with a BRCA mutation was only 24 percent, not 82 percent. This suggests that environmental factors and epigenetics—how your genes are expressed—play a significant role. Your epigenetics can influence BRCA genes even without mutations, potentially muting their tumor-suppressing abilities through imbalanced methylation.

     The good news? Many of these factors are modifiable. From diet to stress management, you can influence how your genes express themselves. Science is continually discovering new ways to take control of our health and rewrite the story of our genes.

     NOTE: A mutation is a change in the nucleotide sequence of a gene. If a mutation occurs in a population at a frequency of more than 1%, the mutation is called a single nucleotide polymorphism (SNP). A mutation refers to a DNA variant within a specific individual, while a polymorphism refers to DNA variants within a population. The main difference between a mutation and a polymorphism is the frequency of occurrence of each type of variant within a population.