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Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma
المؤلفون المشاركون
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
المصدر
International Journal of Genomics
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-08-19
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1172806
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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