Article

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

2023-12-15

Abstract excerpt

Germline BRCA2 loss-of function (LOF) variants identified by clinical genetic testing predispose to breast, ovarian, prostate and pancreatic cancer. However, variants of uncertain significance (VUS) (n>4000) limit the clinical use of testing results. Thus, there is an urgent need for functional characterization and clinical classification of all BRCA2 variants. Here we report on comprehensive saturation genome ed...

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Literature Corpus work: 6da4f193-1802-5bd3-a852-6ca05f886f66
DOI: 10.1101/2023.12.14.571597

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