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Article

Saturation genome editing-based clinical classification of BRCA2 variants.

Nature - 1 Feb 2025

Sahu Sounak, Galloux Melissa, Southon Eileen, Caylor Dylan, Sullivan Teresa, Arnaudi Matteo, Zanti Maria, Geh Josephine, Chari Raj, Michailidou Kyriaki, Papaleo Elena, Sharan Shyam K

Abstract excerpt

Sequencing-based genetic tests have uncovered a vast array of BRCA2 sequence variants1. Owing to limited clinical, familial and epidemiological data, thousands of variants are considered to be variants of uncertain significance2-4 (VUS). Here we have utilized CRISPR-Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line to determine the functional effect of VUS. We have categorized...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39779848
DOI: 10.1038/s41586-024-08349-1

Genes

BRCA2

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