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About 10% of breast cancer is due to inherited mutations in genes such as BRCA1/2, PTEN, PALB2, or others. Sometimes, either because of a family history of cancer or because of particular traits of the cancer itself, a diagnosis of breast cancer may suggest that the cancer is hereditary. In these circumstances an appointment with an expert, such as a geneticist or a genetic counselor, is recommended.
National guidelines recommend genetic evaluation for the following people with breast cancer:
Hereditary breast cancer and sporadic breast cancer are similar in some ways, but there are also significant differences. Learning that breast cancer is hereditary may change treatment or follow-up recommendations for breast cancer. Also, if a cancer survivor is the first person to have a genetic test in a family, his/her test result may help identify the cause of hereditary cancer in this family. This information can help other family members make decisions about genetic counseling and testing.
Breast cancer survivors with mutations in BRCA or other genes that increase cancer risk have a higher likelihood of developing a second breast cancer than women with sporadic breast cancer. This occurrence of a second breast cancer is considered a new "primary cancer.” This is different from a "recurrence" of the original breast cancer. Breast cancer survivors with hereditary breast cancer are at risk for other cancers, and may qualify for additional screening and other risk management options based on their inherited mutation.