The landscape of BRCA1 and BRCA2 large rearrangements in an international cohort of over 20 000 ovarian tumors identified using next-generation sequencing.

Melanie A Jones,Kirsten M Timms,Shanell Hatcher,Elizabeth S Cogan, Matthew S Comeaux,Michael Perry,Brian Morris,Brad Swedlund,Cathy E Elks,Pierre Lao-Sirieix,Simon Dearden,Coumaran Egile,Jessica S Brown,Elizabeth A Harrington,Darren Hodgson, Matt Stern,Thomas P Slavin,Debora Mancini-DiNardo

Genes, chromosomes & cancer（2023）

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摘要

Over 6% of PVs detected in the ovarian tumors analyzed were LRs. It is imperative for laboratories to utilize testing methodologies that will accurately detect LRs at a single exon resolution to optimize the identification of patients who may benefit from PARP inhibitor treatment.

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关键词

companion diagnostic testing, copy number variants, deletion, duplication, homologous recombination deficiency, large rearrangements, next-generation sequencing, ovarian cancer, PARP inhibitors, tumor testing

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