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Structural variants at the <i>BRCA1/2</i> loci are a common source of homologous repair deficiency in high grade serous ovarian carcinoma

2020-05-12

Abstract excerpt

Around half of high grade serous ovarian carcinomas (HGSOC) show homologous recombination repair deficiency (HRD), often caused by germline or somatic single nucleotide variant (SNV) mutations or small indels disrupting BRCA1/2 . We have uniformly processed the largest collection of whole genome sequencing (WGS) data from HGSOC samples to date (N=205), comprehensively characterising the somatic mutational landsca...

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Literature Corpus work
f6d60529-adc5-5d71-ac01-50bfd05ce989
DOI
10.1101/2020.05.11.088278
Open publication

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Structural variants at the <i>BRCA1/2</i> loci are a common source of homologous repair deficiency in high grade serous ovarian carcinomaDOI 10.1101/2020.05.11.088278
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