Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

paraganglioma pheochromocytoma susceptibility genes targeted sequencing

Journal

Journal of kidney cancer and VHL
ISSN: 2203-5826
Titre abrégé: J Kidney Cancer VHL
Pays: Australia
ID NLM: 101695919

Informations de publication

Date de publication:
2021
Historique:
received: 01 02 2021
accepted: 28 02 2021
entrez: 29 3 2021
pubmed: 30 3 2021
medline: 30 3 2021
Statut: epublish

Résumé

The aim of this study was to evaluate germline variant frequencies of pheochromocytoma and paraganglioma targeted susceptibility genes with next-generation sequencing method. Germline DNA from 75 cases were evaluated with targeted next-generation sequencing on an Illumina NextSeq550 instrument.

Identifiants

pubmed: 33777662
doi: 10.15586/jkcvhl.v8i1.171
pii: JKCVHL-8-019
pmc: PMC7969383
doi:

Types de publication

Journal Article

Langues

eng

Pagination

19-24

Informations de copyright

Copyright: Yalcintepe S et al.

Déclaration de conflit d'intérêts

The authors declare that there is no conflict of interest.

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Auteurs

Sinem Yalcintepe (S)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Hakan Gurkan (H)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Fatma Nur Korkmaz (FN)

Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey.

Selma Demir (S)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Engin Atli (E)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Damla Eker (D)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Hazal Sezginer Guler (HS)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Drenusha Zhuri (D)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Emine Ikbal Atli (EI)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Semra Ayturk Salt (SA)

Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, Trakya University, Edirne, Turkey.

Mustafa Sahin (M)

Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey.

Sibel Guldiken (S)

Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, Trakya University, Edirne, Turkey.

Classifications MeSH