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Whole-exome sequencing provides assessment of homologous recombination deficiency for identification of PARPi-responsive ovarian tumors.

Gynecologic oncology - 1 Jun 2025

Evans Elizabeth, Dholakia Jhalak, Abraham Jim, Hinton Andrew, Zhang Jian, Xiu Joanne, Maney Todd, Oberley Matt, Thacker Premal, Herzog Thomas J, Spetzler David, Arend Rebecca C

Abstract excerpt

BACKGROUND/OBJECTIVES: Homologous recombination repair deficiency (HRD) is frequently detected in gynecological cancers and is associated with sensitivity to poly-ADP ribose polymerase inhibition (PARPi). BRCA1/2 mutations have been approved as biomarkers for PARPi therapy, along with genomic patterns such as genomic loss of heterozygosity (gLOH) and large-scale transitions (LSTs). Clinical applications of...

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PMID: 40344964
DOI: 10.1016/j.ygyno.2025.04.586

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GSS
BRCA1

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