Germline nonsense-mutations of the SMARCB1 gene in Russian patients with rhabdoid renal tumors

Germline nonsense-mutations of the SMARCB1 gene in Russian patients with rhabdoid renal tumors

The malignant rhabdoid tumor (RT) is one of the most aggressive childhood neoplasm. RTs are characterized by the presence of inactivating mutations in the SMARCB1 (hSNF5/INI1/BAF47) gene – a tumor suppressor localized in 22q11.2. Up to 30 % of RTs caused by germline mutations of this gene, to date t...

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Bibliographic Details
Main Authors: D. S. Mikhaylenko, M. V. Teleshova, D. V. Perepechin, G D. Efremov, D. Yu. Kachanov, E. V. Raykina, V. O. Bobrynina, S. G. Lavrina, A. M. Mitrofanova, D. M. Konovalov, S. R. Varfolomeeva, B. Ya. Alekseev
Format: Article
Language:Russian
Published: ABV-press 2017-06-01
Series:Onkourologiâ
Subjects:
malignant rhabdoid tumor
smarcb1 gene
nonsense-mutation
sequencing
renal tumor
Online Access:https://oncourology.abvpress.ru/oncur/article/view/630

Internet

https://oncourology.abvpress.ru/oncur/article/view/630

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