A Validated Functional Analysis of PALB2 Missense Variants for Use in Clinical Variant Interpretation

Abstract excerpt

Clinical genetic testing readily detects germline genetic variants. Yet, the evidence available for variant classification as benign or pathogenic is often limited by the rarity of individual variants, leading to many “variant of uncertain significance” (VUS) classifications. VUS cannot guide clinical decisions, complicating counseling and management. Laboratory assays can potentially aid reclassification, but req...

Topics

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• BRCA2 Protein
• DNA Damage
• Fanconi Anemia Complementation Group N Protein
• Gene Editing
• Gene Knockdown Techniques
• HEK293 Cells
• Mutation, Missense
• Recombinational DNA Repair

Identifiers and source

Literature Corpus work

ca8eda4f-0d71-5c0c-9a6c-2eedda07fa53

DOI

10.1101/2020.08.27.270553