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

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. , an...

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Bibliographic Details
Published in:	Journal of kidney cancer and VHL Vol. 8; no. 1; pp. 19 - 24
Main Authors:	Yalcintepe, Sinem, Gurkan, Hakan, Korkmaz, Fatma Nur, Demir, Selma, Atli, Engin, Eker, Damla, Guler, Hazal Sezginer, Zhuri, Drenusha, Atli, Emine Ikbal, Salt, Semra Ayturk, Sahin, Mustafa, Guldiken, Sibel
Format:	Journal Article
Language:	English
Published:	Australia Codon Publications 13-03-2021
Subjects:	Pheochromocytoma Pheochromocytoma, Paraganglioma, Targeted Sequencing, Susceptibility genes targeted sequencing pheochromocytoma susceptibility genes paraganglioma
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Summary:	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. , and genes were included in the study, and Sanger sequencing was used for verifying the variants. The pathogenic/likely pathogenic variants were in the , and genes, and the diagnosis rate was 24% in this study. Three different novel pathogenic variants were determined in five cases. This is the first study from Turkey, evaluating germline susceptibility genes of pheochromocytoma and paraganglioma with a detection rate of 24% and three novel variants. All patients with pheochromocytoma and paraganglioma need clinical genetic testing with expanded targeted gene panels for higher diagnosis rates.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2203-5826 2203-5826
DOI:	10.15586/jkcvhl.v8i1.171