What are BRCA Genes?

The Role of the BRCA Gene in DNA repair

To understand the BRCA1 and BRCA2 genes, we first need to understand DNA and how it works. DNA stores genetic information in every cell in the body. Think of DNA as a cookbook that contains recipes. Since your body does a lot of cooking, these recipes get used over and over again. That frequent use of the DNA cookbook leads to pages getting torn and recipes obscured. In fact, our DNA is continually hit by both internal and external factors that cause damage. Common external sources of damage include UV radiation from the sun and smoking.

Your body has a natural way of fixing the damage from continual assaults on the DNA, but this process isn't always perfect. Just as accidentally replacing "teaspoon" with "tablespoon" in a real recipe can throw off the entire dish, small errors in the DNA repair process can have big consequences and result in many diseases, including cancer.

BRCA1 and BRCA2 are genes that play an important role in repairing DNA when it gets damaged. If the BRCA genes are themselves damaged, they can no longer do their job, and the unrepaired DNA can, in time, lead to cancer.

Cancer Risks Associated with BRCA Mutations

Some people inherit malfunctioning—or mutated—BRCA genes from their parents. Having a mutated BRCA gene puts people at an increased risk of developing several types of cancers, including breast, ovarian, and others.

These cancers can occur even when the BRCA genes work normally, but having a BRCA mutation increases a woman's chance of developing breast cancer by age 70 to 66% (vs. 12% for the general population) and the chance of developing ovarian cancer by that age to 31% (vs. less than 1% for the general population).

BRCA gene mutations also increase the risk of pancreatic cancer. Research conducted by faculty at the Pancreas Center at Columbia found that approximately 10% of pancreatic cancers we treat are associated with BRCA1 and 2 mutations. Others have found the link between pancreatic cancer and BRCA2 mutations to be as high as 19%.

Other cancers are also associated with mutations of BRCA1 and 2, including melanoma and breast and prostate cancer in men. If a person has inherited the BRCA2 gene mutation from both parents, they face an increased risk of childhood solid tumors and acute myeloid leukemia.

Am I at Risk?

Certain populations are more likely to carry mutations of the BRCA genes. You may be more likely to have a BRCA gene mutation if you have any of the following risk factors:

  • Ashkenazi Jewish ancestry
  • Norwegian ancestry
  • Dutch ancestry
  • Icelandic ancestry
  • Family members with known BRCA gene mutations
Read more about BRCA and Pancreatic Cancer here »
Read about BRCA and Breast Cancer here »
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