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Article

The discrepancy of somatic BRCA1/2 pathogenic variants from two different platforms in epithelial ovarian, fallopian tube, and peritoneal cancer.

Scientific reports - 29 Oct 2024

Kim Ji Hyun, Shin Jun-Young, Park Seog-Yun, Seo Sang-Soo, Kang Sokbom, Yoo Chong Woo, Park Sang-Yoon, Lim Myong Cheol

Abstract excerpt

The somatic BRCA1 or BRCA2 Pathogenic Variant (PV)/Likely PV (LPV) from Next Generation Sequencing (NGS) is the most important biomarker for PARP inhibitor use and maintenance-targeted therapies. A discrepancy in the detection rates of BRCA1 and BRCA2 PV/LPV was identified among the NGS platforms. The objective of this study was to compare the somatic BRCA results from two distinct platforms using the same cohort...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39468117
DOI: 10.1038/s41598-024-75230-6
PMCID: PMC11519512

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