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Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.

Ailith EwingAlison M MeynertMichael ChurchmanGraeme R GrimesRobert L HollisC. Simon HerringtonTzyvia RyeClare BartosIan CroyMichelle FergusonMairi LennieTrevor McGoldrickNeil McPhailNadeem SiddiquiSuzanne DowsonRosalind M GlasspoolMelanie MackeanFiona NusseyBrian McDadeDarren EnnisLynn McMahonAthena MatakidouBrian DoughertyRuth MarchJ Carl BarrettIain A McNeishnull nullAndrew V BiankinPatricia RoxburghCharlie GourleyColin A Semple
Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2021)
These results extend our understanding of the mutational landscape underlying HRD, increase the number of patients predicted to benefit from therapies exploiting HRD, and suggest there is currently untapped potential in SV detection for patient stratification.
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