التفاصيل البيبلوغرافية
| العنوان: |
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 |
| المؤلفون: |
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 |
| المصدر: |
Frontiers in Oncology, Vol 13 (2024) |
| بيانات النشر: |
Frontiers Media S.A., 2024. |
| سنة النشر: |
2024 |
| المجموعة: |
LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| مصطلحات موضوعية: |
cancer predisposition syndrome, succinate dehydrogenase complex subunit C (SHDC) gene, variants of uncertain significance (VUS), neuroblastoma, acute myeloid leukemia, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| الوصف: |
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 clinician, leading to difficulties in decision-making regarding medical management, the surveillance program, and genetic counseling. Moreover, it can generate confusion and anxiety for patients and their family members. Herein, we report a 5-year-old girl carrying a VUS in the Succinate Dehydrogenase Complex Subunit C (SHDC) gene who had been previously treated for high-risk neuroblastoma and subsequently followed by the development of secondary acute myeloid leukemia. In this context, we describe how functional studies can provide additional insight on gene function determining whether the variant interferes with normal protein function or stability. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2234-943X |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fonc.2023.1324013/full; https://doaj.org/toc/2234-943X |
| DOI: |
10.3389/fonc.2023.1324013 |
| URL الوصول: |
https://doaj.org/article/9a9082b1342045729d45a563947a18ad |
| رقم الانضمام: |
edsdoj.9a9082b1342045729d45a563947a18ad |
| قاعدة البيانات: |
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