Article
Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.
Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Jun 2021
Ewing Ailith, Meynert Alison, Churchman Michael, Grimes Graeme R, Hollis Robert L, Herrington C Simon, Rye Tzyvia, Bartos Clare, Croy Ian, Ferguson Michelle, Lennie Mairi, McGoldrick Trevor, McPhail Neil, Siddiqui Nadeem, Dowson Suzanne, Glasspool Rosalind, Mackean Melanie, Nussey Fiona, McDade Brian, Ennis Darren, McMahon Lynn, Matakidou Athena, Dougherty Brian, March Ruth, Barrett J Carl, McNeish Iain A, Biankin Andrew V, Roxburgh Patricia, Gourley Charlie, Semple Colin A
Abstract excerpt
PURPOSE: The abundance and effects of structural variation at BRCA1/2 in tumors are not well understood. In particular, the impact of these events on homologous recombination repair deficiency (HRD) has yet to be demonstrated. EXPERIMENTAL DESIGN: Exploiting a large collection of whole-genome sequencing data from high-grade serous ovarian carcinoma (N = 205) together with matched RNA sequencing for the majority...
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