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Article

Accurate classification of BRCA1 variants with saturation genome editing.

Nature - 1 Oct 2018

Findlay Gregory M, Daza Riza M, Martin Beth, Zhang Melissa D, Leith Anh P, Gasperini Molly, Janizek Joseph D, Huang Xingfan, Starita Lea M, Shendure Jay

Abstract excerpt

Variants of uncertain significance fundamentally limit the clinical utility of genetic information. The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which germline loss-of-function variants predispose women to breast and ovarian cancer. Although BRCA1 has been sequenced in millions of women, the risk associated with most newly observed variants cannot be definitively assigned. Here we...

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Identifiers

PMID: 30209399
DOI: 10.1038/s41586-018-0461-z
PMCID: PMC6181777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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