Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.

Humans Histones / genetics Phosphorylation Female Breast Neoplasms / genetics BRCA2 Protein / genetics Comet Assay / methods High-Throughput Nucleotide Sequencing Retrospective Studies Mutation, Missense DNA Breaks, Double-Stranded DNA Damage
BRCA2 DNA Damage VUS classification comet functional assays hereditary breast and ovarian cancer (HBOC) syndrome γH2AX

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
01 Jun 2024
Historique:
received: 15 04 2024
revised: 15 05 2024
accepted: 23 05 2024
medline: 27 6 2024
pubmed: 27 6 2024
entrez: 27 6 2024
Statut: epublish

Résumé

Pathogenic variations in the

Identifiants

DOI: 10.3390/genes15060724 PMID: 38927659
pubmed: 38927659
pii: genes15060724
doi: 10.3390/genes15060724
pii:
doi:

Substances chimiques

Histones 0
H2AX protein, human 0
BRCA2 Protein 0
BRCA2 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Acıbadem University
ID : 2022/02-16.
Organisme : Scientific and Technological Research Council of Turkey
ID : 118C082

Auteurs

Sevdican Ustun Yilmaz (S)

Department of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Türkiye.
ORCID: 0000-0001-8349-3629

Nihat Bugra Agaoglu (NB)

Department of Medical Genetics, Umraniye Training and Research Hospital, University of Health Sciences, 34764 Istanbul, Türkiye.
IKF-The Frankfurt Institute of Clinical Cancer Research, 60488 Frankfurt am Main, Germany.

Karin Manto (K)

Department of Genome Studies, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Türkiye.
ORCID: 0009-0006-9109-9799

Meltem Muftuoglu (M)

Department of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Türkiye.
Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Türkiye.
ORCID: 0000-0001-5372-4780

Ugur Özbek (U)

Department of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Türkiye.
Department of Genome Studies, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Türkiye.
Izmir Biomedicine and Genome Center (IBG), 35340 Izmir, Türkiye.
ORCID: 0000-0001-5319-0547

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Histone › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Métabolisme › Phosphorylation › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies du sein › Tumeurs du sein › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Protéine BRCA2 › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Techniques d'investigation › Tests de toxicité › Tests de mutagénicité › Test des comètes › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Phénomènes génétiques › Altération de l'ADN › Cassures de l'ADN › Cassures double-brin de l'ADN › Cosmic Whirl: Navigating the Comet Trail in...
questionsmedicales.fr › Phénomènes génétiques › Altération de l'ADN › Cosmic Whirl: Navigating the Comet Trail in...