Approximately seven to 10 percent of breast cancers are due to hereditary cancer susceptibility syndromes. It is estimated that more than half of these are due to pathogenic variants (or, in other words, mutations) in the BRCA1 or BRCA2 genes. Many young breast cancer survivors have heard of the importance of genetic testing for BRCA1 and BRCA2, but you may not know that testing is available for the other genes related to hereditary breast cancer as well.
These new tests are often referred to as panel tests because, rather looking at one gene at a time, the laboratory now analyzes several genes at once. Many insurance companies are now covering this testing because it can be more cost-effective and reduces turn-around time. In the past, each genetic test used to take three to four weeks (or longer) to return results and that meant you had to wait for the first result before proceeding to an additional test, as the majority of these tests only looked at one gene at a time. With the updated panel testing, you are able to get several genes tested at one time, requiring only one sample.
Much like testing for BRCA1 and BRCA2, a positive test result in one of these other genes can affect medical management decisions, such as increasing the amount of screening to monitor for cancer, electing to have preventive surgery, or considering chemoprevention. An abnormal result in one of these genes also has implications for other family members who may be at an increased risk for the associated cancers.
If you are a young breast cancer survivor who previously underwent genetic testing for BRCA1 and BRCA2 and had a negative or inconclusive result, you may want to contact your doctor or genetic counselor to discuss if panel testing is recommended for you.