Diagnosis of Ovarian Carcinoma Homologous Recombination DNA Repair Deficiency From Targeted Gene Capture Oncology Assays.

Niklas Krumm,Nithisha S Khasnavis,Marc Radke,Kalyan Banda,Helen R Davies,Christopher Pennil, Kathryn McLean,Vera A Paulson,Eric Q Konnick, Winslow C Johnson,Grogan Huff,Serena Nik-Zainal,Elizabeth M Swisher,Christina M Lockwood,Stephen J Salipante

JCO precision oncology（2023）

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摘要

Targeted sequencing of genome-wide polymorphic SNP sites can be used to infer LOH events and subsequently diagnose HRD in ovarian tumors. The methods presented here are readily generalizable to other targeted gene oncology assays and could be adapted for HRD diagnosis in other tumor types.

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关键词

recombination,oncology,dna

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