Published: Jun 1, 2021 by Ailith
Our recent work ‘Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma’ is published in Clinical Cancer Research. Clin Cancer Res June 1 2021 (27) (11) 3201-3214; DOI: 10.1158/1078-0432.CCR-20-4068.
For the first time, we have found large deletions at the BRCA1/2 genes that reduce the activity of these genes in ovarian and other cancers. These deletions contribute to a reduction in the tumour’s ability to repair its DNA accurately.
Tumours that cannot repair their DNA in this way can be treated very effectively with PARP inhibitors. The detection of these deletions in patient’s tumours could identify more patients that may benefit from this effective therapy.
This work is the first output from a great collaboration with Prof Charlie Gourley in the CRUK Edinburgh Centre, together with academic, clinical and industry partners, to generate WGS data for high grade serous ovarian tumour samples. I have also written about it in a tweetorial…
