Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
Brittany L BychkovskyTianyu LiJilliane SoteloNabihah TayobJoanna MercadoIsrael GomyAnu ChittendenSarah KaneSamantha StokesMelissa E HughesJi Seok KimRenato UmetonMark M AwadPanagiotis A KonstantinopoulosMatthew B YurgelunBrian M WolpinMary-Ellen TaplinRandall E NewmarkBruce E JohnsonNeal I LindemanLaura E MacConaillJudy E GarberNancy U LinPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2022)
Tumor-only genomic testing identified P/LPs in B1B2P2 in 3.6% of patients. 52.9% of patients with tumor-detected P/LPs and without CGT did not meet personal or family history criteria for CGT. In addition, some patients with tumor-detected P/LPs were not referred for CGT, especially those with non-BRCA tumors. Given implications for treatment selection and familial cancer risk, processes to reliably trigger CGT from tumor-genomic findings are needed.