Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.


Journal

Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664

Informations de publication

Date de publication:
07 2023
Historique:
revised: 09 03 2023
received: 19 01 2023
accepted: 10 03 2023
medline: 5 6 2023
pubmed: 29 3 2023
entrez: 28 3 2023
Statut: ppublish

Résumé

In breast or ovarian cancer (BC/OC) patients with evocative personal and/or family history, multigene panel sequencing is performed on blood to diagnose hereditary predispositions. Additionally, BRCA1/BRCA2 testing can be performed on tumor sample for therapeutic purpose. The accuracy of multigene panel tumor analysis on BC/OC to detect predisposing germline pathogenic variants (gPV) has not been precisely assessed. By comparing sequencing data from blood and fresh-frozen tumor we show that tumor genomic instability causes pitfalls to consider when performing tumor testing to detect gPV. Even if loss of heterozygosity increases germline signal in most cases, somatic copy number variants (CNV) can mask germline CNV and collapse point gPV variant allele frequency (VAF). Moreover, VAF does not allow an accurate distinction between germline and somatic pathogenic variants.

Identifiants

pubmed: 36974006
doi: 10.1111/cge.14327
doi:

Substances chimiques

BRCA1 Protein 0
BRCA2 Protein 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

107-113

Informations de copyright

© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Références

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Auteurs

Mathias Schwartz (M)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Virginie Moncoutier (V)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Adrien Peytral (A)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Jessica Le Gall (J)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Voreak Suybeng (V)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Mélanie Pagès (M)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Julien Masliah-Planchon (J)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Olfa Trabelsi-Grati (O)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Samia Melaabi (S)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Céline Callens (C)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Ivan Bièche (I)

Department of Genetics, Institut Curie, Paris, France.
Paris-Cité University, Paris, France.

Hélène Delhomelle (H)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Antoine De Pauw (A)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Claire Saule (C)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Emmanuelle Mouret-Fourme (E)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Marion Gauthier-Villars (M)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Bruno Buecher (B)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

Chrystelle Colas (C)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.
Cancer, Heterogeneity, Instability and Plasticity, INSERM U830, Institut Curie, Paris, France.

Dominique Stoppa-Lyonnet (D)

Department of Genetics, Institut Curie, Paris, France.
Paris-Cité University, Paris, France.
Cancer, Heterogeneity, Instability and Plasticity, INSERM U830, Institut Curie, Paris, France.

Lisa Golmard (L)

Department of Genetics, Institut Curie, Paris, France.
Paris Sciences Lettres Research University, Paris, France.

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