Data from Structural Variants at the <i>BRCA1/2</i> Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma Article Swipe
Ailith Ewing
,
Alison Meynert
,
Michael Churchman
,
Graeme R. Grimes
,
Robert L. Hollis
,
C. Simon Herrington
,
Tzyvia Rye
,
Clare Bartos
,
Ian Croy
,
Michelle Ferguson
,
Mairi Lennie
,
Trevor McGoldrick
,
Neil McPhail
,
Nadeem Siddiqui
,
Suzanne Dowson
,
Rosalind Glasspool
,
Melanie Mackean
,
Fiona Nussey
,
Brian McDade
,
Darren Ennis
,
Lynn McMahon
,
Athena Matakidou
,
Brian Dougherty
,
Ruth March
,
J. Carl Barrett
,
Iain A. McNeish
,
Andrew V. Biankin
,
Patricia Roxburgh
,
Charlie Gourley
,
Colin A. Semple
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1158/1078-0432.c.6530660.v1
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1158/1078-0432.c.6530660.v1
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 of tumors (N = 150), we have comprehensively characterized mutation and expression at BRCA1/2.Results:In addition to the known spectrum of short somatic mutations (SSM), we discovered that multi-megabase structural variants (SV) were a frequent, unappreciated source of BRCA1/2 disruption in these tumors, and we found a genome-wide enrichment for large deletions at the BRCA1/2 loci across the cohort. These SVs independently affected a substantial proportion of patients (16%) in addition to those affected by SSMs (24%), conferring HRD and impacting patient survival. We also detail compound deficiencies involving SSMs and SVs at both loci, demonstrating that the strongest risk of HRD emerges from combined SVs at both BRCA1 and BRCA2 in the absence of SSMs. Furthermore, these SVs are abundant and disruptive in other cancer types.Conclusions: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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Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1158/1078-0432.c.6530660.v1
- OA Status
- gold
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4361863694
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4361863694Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1158/1078-0432.c.6530660.v1Digital Object Identifier
- Title
-
Data from Structural Variants at the <i>BRCA1/2</i> Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian CarcinomaWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-03-31Full publication date if available
- Authors
-
Ailith Ewing, Alison Meynert, Michael Churchman, Graeme R. Grimes, Robert L. Hollis, C. Simon Herrington, Tzyvia Rye, Clare Bartos, Ian Croy, Michelle Ferguson, Mairi Lennie, Trevor McGoldrick, Neil McPhail, Nadeem Siddiqui, Suzanne Dowson, Rosalind Glasspool, Melanie Mackean, Fiona Nussey, Brian McDade, Darren Ennis, Lynn McMahon, Athena Matakidou, Brian Dougherty, Ruth March, J. Carl Barrett, Iain A. McNeish, Andrew V. Biankin, Patricia Roxburgh, Charlie Gourley, Colin A. SempleList of authors in order
- Landing page
-
https://doi.org/10.1158/1078-0432.c.6530660.v1Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1158/1078-0432.c.6530660.v1Direct OA link when available
- Concepts
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Biology, Serous fluid, Genetics, Homologous recombination, Cancer research, Somatic cell, Molecular biology, Gene, BiochemistryTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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