Article

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

2023-12-19

Abstract excerpt

<title>Abstract</title> 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 <italic>BRCA2</italic> variants. Here we...

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Literature Corpus work: 432892a2-9409-5e7d-a7d3-11a64dc4cbc9
DOI: 10.21203/rs.3.rs-3736200/v1

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