Somatic mutations are acquired mutations. These mutations may only be present in a patient’s tumor and can be identified with a tumor sample.
Germline mutations are inherited from a person’s parent. These mutations are present in every cell of the body and can be identified with a blood or buccal/saliva sample
Tumor BRCA testing will detect somatic (isolated to the tumor) and germline (inherited) BRCA1/2 mutations to help inform PARP inhibitor treatment decision making. In order to accurately determine whether a BRCA1/2 mutation identified on tumor testing is germline or somatic, follow up hereditary cancer testing should be considered.
* BRACAnalysis CDx has been approved by the FDA to inform treatment decisions related to Lynparza and Zejula in patients with ovarian cancer. myRisk, myChoice HRD and BRACAnalysis have not been approved by the FDA.
†Follow-up testing on a blood or saliva sample is recommended to determine whether a tumor BRCA1/2 mutation is germline (inherited) or somatic (isolated to the tumor).