Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia

Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia

The increased availability of genetic technologies has significantly improved the detection of novel germline variants conferring a predisposition to tumor development in patients with malignant disease. The identification of variants of uncertain significance (VUS) represents a challenge for the cl...

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Bibliographic Details
Main Authors: Francesco Fabozzi, Rosalba Carrozzo, Mariachiara Lodi, Angela Di Giannatale, Selene Cipri, Chiara Rosignoli, Isabella Giovannoni, Alessandra Stracuzzi, Teresa Rizza, Claudio Montante, Emanuele Agolini, Michela Di Nottia, Federica Galaverna, Giada Del Baldo, Francesco Del Bufalo, Angela Mastronuzzi, Maria Antonietta De Ioris
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Oncology
Subjects:
cancer predisposition syndrome
succinate dehydrogenase complex subunit C (SHDC) gene
variants of uncertain significance (VUS)
neuroblastoma
acute myeloid leukemia
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1324013/full

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https://www.frontiersin.org/articles/10.3389/fonc.2023.1324013/full

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