A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript Article Swipe
Mathias Schwartz
,
Mathilde Filser
,
Kevin Merchadou
,
E. Lemaitre
,
Khadija Abidallah
,
Henrique Tenreiro
,
Catherine Dubois d’Enghien
,
Audrey Rapinat
,
Elise Pierre-Noël
,
Voreak Suybeng
,
Marion Espenel
,
Sylvain Baulande
,
Séverine Adams
,
Audrey Remenieras
,
Christel Renaud
,
Camille Aucouturier
,
Capucine Delnatte
,
Céline Garrec
,
Victor Renault
,
Lisa Golmard
,
Emmanuelle Fourme
,
Julien Masliah‐Planchon
,
Sandrine M. Caputo
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1038/s41525-025-00517-0
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1038/s41525-025-00517-0
Pathogenicity assessment of genetic variants is the cornerstone of genetic counselling. Copy gains of exons are challenging, as pathogenicity depends on the localization of the additional exons. Eight patients form six families carried copy gains of BRCA1 exons 8-20. For appropriate characterization, long-read sequencing aligned on three distinct reference genome assemblies, optical genomic mapping, short-read and long-read RNA sequencing were performed. All patients shared the same pathogenic structural variant, involving a large segment located downstream in the genome. One breakpoint occurred in a region incorrectly annotated in GRCh37/hg19 and GRCh38/hg38. Alignment to the T2T-CHM13/hs1 assembly was therefore necessary for accurate characterization. This rearrangement caused various BRCA1 transcriptomic abnormalities: back-splicing, forward genomic strand transcription by insertion of an ectopic promoter, fusion transcripts with the "Next to BRCA1" gene 1 (NBR1). Our findings underscore the need to combine advanced technologies with the latest genome references to resolve complex rearrangements with significant medical implications.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41525-025-00517-0
- https://www.nature.com/articles/s41525-025-00517-0.pdf
- OA Status
- gold
- References
- 34
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4412795522
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4412795522Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1038/s41525-025-00517-0Digital Object Identifier
- Title
-
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcriptWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2025Year of publication
- Publication date
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2025-07-31Full publication date if available
- Authors
-
Mathias Schwartz, Mathilde Filser, Kevin Merchadou, E. Lemaitre, Khadija Abidallah, Henrique Tenreiro, Catherine Dubois d’Enghien, Audrey Rapinat, Elise Pierre-Noël, Voreak Suybeng, Marion Espenel, Sylvain Baulande, Séverine Adams, Audrey Remenieras, Christel Renaud, Camille Aucouturier, Capucine Delnatte, Céline Garrec, Victor Renault, Lisa Golmard, Emmanuelle Fourme, Julien Masliah‐Planchon, Sandrine M. CaputoList of authors in order
- Landing page
-
https://doi.org/10.1038/s41525-025-00517-0Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41525-025-00517-0.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.nature.com/articles/s41525-025-00517-0.pdfDirect OA link when available
- Concepts
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Breakpoint, Genome, Genetics, Biology, Gene duplication, Computational biology, Gene, Chromosomal translocationTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- References (count)
-
34Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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