Carriers of BRCA1 and BRCA2 pathogenic variants are at a significantly elevated risk for several cancers. Widespread germline genetic testing has led …

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CRISPR–Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line was used for comprehensive functional characterization of single nucleotide variants in a region of BRCA2, and...

Molecular biology; Cell biology; Omics

npj Precision Oncology - Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing