Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma
Joint Authors
Pession, Andrea
Vicennati, Valentina
Urbini, Milena
Astolfi, Annalisa
Biasco, G.
Nannini, Margherita
Indio, Valentina
De Luca, Matilde
Tarantino, Giuseppe
Corso, Federica
Saponara, Maristella
Gatto, Lidia
Di Dalmazi, Guido
Pantaleo, Maria A.
Santini, Donatella
Pagotto, Uberto
Pasquali, Renato
Source
International Journal of Genomics
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-19
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Background.
Pheochromocytomas (PCCs) show the highest degree of heritability in human neoplasms.
However, despite the wide number of alterations until now reported in PCCs, it is likely that other susceptibility genes remain still unknown, especially for those PCCs not clearly syndromic.
Methods.
Whole exome sequencing of tumor DNA was performed on a set of twelve PCCs clinically defined as sporadic.
Results.
About 50% of PCCs examined had somatic mutations on the known susceptibility VHL, NF1, and RET genes.
In addition to these driver events, mutations on SYNE1, ABCC10, and RAD54B genes were also detected.
Moreover, extremely rare germline variants were present in half of the sporadic PCC samples analyzed, in particular variants of MAX and SAMD9L were detected in the germline of cases wild-type for mutations in the known susceptibility genes.
Conclusions.
Additional somatic passenger mutations can be associated with known susceptibility VHL, NF1, and RET genes in PCCs, and a wide number of germline variants with still unknown clinical significance can be detected in these patients.
Therefore, many efforts should be aimed to better define the pathogenetic role of all these germline variants for discovering novel potential therapeutic targets for this disease still orphan of effective treatments.
American Psychological Association (APA)
Urbini, Milena& Nannini, Margherita& Astolfi, Annalisa& Indio, Valentina& Vicennati, Valentina& De Luca, Matilde…[et al.]. 2018. Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma. International Journal of Genomics،Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1172806
Modern Language Association (MLA)
Urbini, Milena…[et al.]. Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma. International Journal of Genomics No. 2018 (2018), pp.1-9.
https://search.emarefa.net/detail/BIM-1172806
American Medical Association (AMA)
Urbini, Milena& Nannini, Margherita& Astolfi, Annalisa& Indio, Valentina& Vicennati, Valentina& De Luca, Matilde…[et al.]. Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma. International Journal of Genomics. 2018. Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1172806
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172806