Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants

The unknown pathogenicity of a significant number of variants found in cancer-related genes is attributed to limited epidemiological data, resulting in their classification as variant of uncertain significance (VUS). To date, Breast Cancer gene-2 (BRCA2) has the highest number of VUSs, which has nec...

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Detalles Bibliográficos
Autores principales: Sahu, Sounak, Sullivan, Teresa L., Mitrophanov, Alexander Y., Galloux, Mélissa, Nousome, Darryl, Southon, Eileen, Caylor, Dylan, Mishra, Arun Prakash, Evans, Christine N., Clapp, Michelle E., Burkett, Sandra, Malys, Tyler, Chari, Raj, Biswas, Kajal, Sharan, Shyam K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10529611/
https://www.ncbi.nlm.nih.gov/pubmed/37713444
http://dx.doi.org/10.1371/journal.pgen.1010940

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