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There may be overlaps between somatic and germline tests. Cancers that form in people with an inherited mutation often have certain features that show up in a tumor test. Therefore, some tumor test results may also indicate that the patient has an inherited mutation.
An example would be a tumor test that identifies a genomic feature called microsatellite instability (MSI). This type of test is usually run on all colon cancers. A person with a tumor that has MSI may respond particularly well to pembrolizumab, an immuno-oncology agent. Because MSI in tumors is often found in people with an inherited mutation that is associated with Lynch Syndrome, patients with MSI tumors are often advised to undergo testing for this syndrome. If they have an inherited mutation in a gene that is associated with Lynch Syndrome, their relatives may also be tested.
Tests can also determine if a cancer may respond to a drug known as a PARP inhibitor. These new cancer treatments may work particularly well in people with a BRCA, PALB2 or other mutation associated with HBOC. A person whose tumor test indicates they may respond well to a PARP inhibitor may also be referred for genetic counseling and testing for mutations in BRCA, PALB2 or other genes that are associated with HBOC.