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Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.

Experimental and molecular pathology - 1 Oct 2020

Sim Wey Cheng, Lee Chee Yang, Richards Rebecca, Bettens Karolien, Mottier Violaine, Goh Liuh Ling

Abstract excerpt

BRCA1, BRCA2, CHEK2 and PALB2 genes are associated with hereditary breast and ovarian cancer syndrome. Genetic testing of these genes is of increasing importance to guide therapeutic and management decisions. In this study, we evaluated the performance of a next generation sequencing (NGS) assay for the complete analysis of BRCA1, BRCA2, CHEK2 and PALB2 genes using Agilent's SureMASTR BRCA Screen that enabled the...

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PMID: 32531196
DOI: 10.1016/j.yexmp.2020.104483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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