Have you or a family member been screened for mutations (pathogenic variants) in the BRCA genes, and the results were negative? Was this test performed more than 5 years ago?
Do you still suspect an underlying hereditary cause due to a strong family history of breast cancer or other types of cancers?
You may want to consider prevention genetics and genetic testing for other hereditary breast cancer genes.
About 10% of all breast cancers have an underlying hereditary cause. It is true that most hereditary forms of breast cancer are due to variants in the BRCA1 or BRCA2 genes, but since their discovery in the mid-1990’s researchers and clinicians have identified a growing number of other breast cancer genes which can have a significant impact on one’s risk and cancer screening recommendations.
Standard genetic screening for hereditary breast cancer now consists of analyzing more than 20 genes at once. This means that you may now be able to find answers about your personal or family history of cancer that were not available just a few years ago.
Some additional genes to consider:
- PALB2: Pathogenic variants in this gene can be associated with a significantly elevated risk of developing breast cancer. This gene is also associated with an increased risk of pancreatic cancer and a somewhat increased risk of ovarian cancer.
- CHEK2: Pathogenic variants in this gene are associated with a moderately increased risk of developing breast and possibly other types of cancer, including colon cancer.
- ATM: Pathogenic variants in this gene can be associated with a moderately increased risk of developing breast cancer and an increased risk for pancreatic cancer.
- TP53: Pathogenic variants in this gene cause Li-Fraumeni syndrome which is associated with a significantly elevated risk of early-onset breast cancer as well as several other types of cancer, including childhood-onset cancers.
If you or a family member tested negative for the BRCA genes (and were not tested for other genes) but are still concerned that there is a hereditary risk in the family, we recommend that you speak with your healthcare provider, or you can contact us or your local Genetics service to see if additional genetic testing is right for you.
Remember, prevention is the key to health! Our genetic counselors are there for you!