Humans Female Middle Aged Tumor Suppressor Protein p53 / genetics BRCA1 Protein / genetics Triple Negative Breast Neoplasms / genetics Gene Duplication Genetic Predisposition to Disease Germ-Line Mutation High-Throughput Nucleotide Sequencing
double heterozygotes exon duplication genetic counseling hereditary breast and ovarian cancer syndrome (HBOC) multi-gene panel testing

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
06 Jun 2024
Historique:
received: 17 04 2024
revised: 29 05 2024
accepted: 30 05 2024
medline: 19 6 2024
pubmed: 19 6 2024
entrez: 19 6 2024
Statut: epublish

Résumé

For patients with hereditary breast and ovarian cancer, the probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes is rare. Using targeted next-generation sequencing (NGS), we investigated a 49-year-old Caucasian woman who developed a highly aggressive breast tumor. Our analyses identified an intragenic germline heterozygous duplication in

Identifiants

DOI: 10.3390/ijms25116274 PMID: 38892462
pubmed: 38892462
pii: ijms25116274
doi: 10.3390/ijms25116274
pii:
doi:

Substances chimiques

Tumor Suppressor Protein p53 0
BRCA1 Protein 0
TP53 protein, human 0
BRCA1 protein, human 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Vuthy Ea (V)

UM Génétique Moléculaire: Maladies Héréditaires et Oncologie, University Hospital Grenoble Alpes, 38000 Grenoble, France.
INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble Alpes University, 38000 Grenoble, France.
ORCID: 0000-0002-7425-2695

Claudine Berthozat (C)

Department of Medical Oncology, Cancer and Blood Diseases, Grenoble Alpes University Hospital, 38000 Grenoble, France.

Hélène Dreyfus (H)

Genetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.

Clémentine Legrand (C)

Genetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.

Estelle Rousselet (E)

Genetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.

Magalie Peysselon (M)

Genetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.

Laura Baudet (L)

Genetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.

Guillaume Martinez (G)

INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble Alpes University, 38000 Grenoble, France.
UM de Génétique Chromosomique, University Hospital Grenoble Alpes, 38000 Grenoble, France.
ORCID: 0000-0002-7572-9096

Charles Coutton (C)

INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble Alpes University, 38000 Grenoble, France.
UM de Génétique Chromosomique, University Hospital Grenoble Alpes, 38000 Grenoble, France.
ORCID: 0000-0002-8873-8098

Marie Bidart (M)

UM Génétique Moléculaire: Maladies Héréditaires et Oncologie, University Hospital Grenoble Alpes, 38000 Grenoble, France.
INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble Alpes University, 38000 Grenoble, France.
ORCID: 0000-0003-4092-1253

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Phosphoprotéines › Protéine p53 suppresseur de tumeur ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéine BRCA1 ›
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies du sein › Tumeurs du sein › Tumeurs du sein triple-négatives ›
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Duplication de gène ›
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit ›