👉Next-generation sequencing technology has made it possible to test dozens of genes at one time for a fraction of the cost of classic BRCA 1 / 2 testing.
👉BRCA1 and BRCA2 are still the most common pathologic mutations identified with these tests.
👉After that, PALB2, CHEK2, and ATMare the next most common.
Distribution of Pathological Mutations Identified Using Multigene Panels.
👉Not all genes included on these multigene panels are known breast cancer predisposition genes.
👉Most of the breast cancer genes share in the task of DNA double-strand break repair.
Most of the breast cancer predisposition genes cooperate with BRCA 1 for DNA double stranded break repair.
👉There is no concern about the accuracy of these tests for detecting mutations (they are very accurate).
👉The real issue is getting the thousands of variants each test identifies classified as clinically meaningful or not.