Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program

PURPOSE: Tumor-only genomic testing can uncover somatic and germline pathogenic variants [pathogenic/likely pathogenic (P/LP)] in cancer predisposition genes. We describe the prevalence of P/LPs in BRCA1/2 and PALB2 (B1B2P2) across malignancies and the frequency of clinical germline testing (CGT) in...

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Detalles Bibliográficos
Autores principales: Bychkovsky, Brittany L., Li, Tianyu, Sotelo, Jilliane, Tayob, Nabihah, Mercado, Joanna, Gomy, Israel, Chittenden, Anu, Kane, Sarah, Stokes, Samantha, Hughes, Melissa E., Kim, Ji Seok, Umeton, Renato, Awad, Mark M., Konstantinopoulos, Panagiotis A., Yurgelun, Matthew B., Wolpin, Brian M., Taplin, Mary-Ellen, Newmark, Randall E., Johnson, Bruce E., Lindeman, Neal I., MacConaill, Laura E., Garber, Judy E., Lin, Nancy U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for Cancer Research 2022
Materias:
Precision Medicine and Imaging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167798/
https://www.ncbi.nlm.nih.gov/pubmed/35363308
http://dx.doi.org/10.1158/1078-0432.CCR-21-2861

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