Heterozygous Pathogenic Nonsense Variant in the

ATM cancer susceptibility gastric cancer

Journal

Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304

Informations de publication

Date de publication:
22 Jul 2023
Historique:
received: 29 06 2023
revised: 12 07 2023
accepted: 12 07 2023
medline: 29 7 2023
pubmed: 29 7 2023
entrez: 29 7 2023
Statut: epublish

Résumé

Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (

Identifiants

pubmed: 37509701
pii: biomedicines11072062
doi: 10.3390/biomedicines11072062
pmc: PMC10377208
pii:
doi:

Types de publication

Case Reports

Langues

eng

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Auteurs

Daniele Guadagnolo (D)

Department of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy.

Gioia Mastromoro (G)

Department of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy.

Enrica Marchionni (E)

Department of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy.

Aldo Germani (A)

Department of Clinical and Molecular Medicine, School of Medicine and Psychology, Sapienza University of Rome, 00185 Rome, Italy.
Medical Genetics Unit, Department of Diagnostic Sciences, Sant'Andrea University Hospital, 00189 Rome, Italy.

Fabio Libi (F)

Medical Genetics Unit, Department of Diagnostic Sciences, Sant'Andrea University Hospital, 00189 Rome, Italy.

Soha Sadeghi (S)

Department of Clinical and Molecular Medicine, School of Medicine and Psychology, Sapienza University of Rome, 00185 Rome, Italy.
Medical Genetics Unit, Department of Diagnostic Sciences, Sant'Andrea University Hospital, 00189 Rome, Italy.

Camilla Savio (C)

Medical Genetics Unit, Department of Diagnostic Sciences, Sant'Andrea University Hospital, 00189 Rome, Italy.

Simona Petrucci (S)

Department of Clinical and Molecular Medicine, School of Medicine and Psychology, Sapienza University of Rome, 00185 Rome, Italy.
Medical Genetics Unit, Department of Diagnostic Sciences, Sant'Andrea University Hospital, 00189 Rome, Italy.

Laura De Marchis (L)

Department of Radiological, Oncological and Anatomopathological Science, Sapienza University of Rome, 00185 Rome, Italy.
Oncology B Unit, Department of Hematology, Dermatology and Oncology, Policlinico Umberto I Univeristy Hospital, 00161 Rome, Italy.

Maria Piane (M)

Department of Clinical and Molecular Medicine, School of Medicine and Psychology, Sapienza University of Rome, 00185 Rome, Italy.
Medical Genetics Unit, Department of Diagnostic Sciences, Sant'Andrea University Hospital, 00189 Rome, Italy.

Antonio Pizzuti (A)

Department of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy.

Classifications MeSH