دورية أكاديمية
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
| العنوان: | Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care |
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| المؤلفون: | Gargallo, Pablo, Oltra Soler, Juan Silvestre, Yáñez Peralta, Yania, Juan Ribelles, Antonio, Calabria, Inés, Segura, Vanessa, Lázaro, Marián, Balaguer Guill, Julia, Tormo, María Teresa, Dolz, Sandra, Fernández, José María, Fuentes, Carolina, Torres, Bárbara, Andrés, Mara, Tasso, María, Castel Sánchez, Victoria, Font de Mora Saínz, Jaime, Cañete Nieto, Adela |
| سنة النشر: | 2022 |
| المجموعة: | Universitat de València: Roderic - Repositorio de contenido libre |
| مصطلحات موضوعية: | Genètica, Càncer en els infants |
| الوصف: | Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient's tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogenic variants associated with recessive diseases was detected, which required family genetic counseling as well. The clinical utility of the Jongmans MC tool was evaluated, showing a high sensitivity for detecting the best-known predisposing syndromes. Our study confirms that the Jongmans MC tool is appropriate for a rapid assessment of patients; however, the updated version of Ripperger T criteria would be more accurate. Meaningfully, based on our findings, up to 9.4% of patients would present genetic alterations predisposing to cancer. Notably, up to 20% of all patients carry germline pathogenic or likely pathogenic variants in genes related to cancer and, thereby, they also require expert genetic counseling. The most important consideration is that the detection rate of genetic causality outside Jongmans MC et al. criteria was very low. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Cancers, 2021, vol. 13, num. 21, p. 5339; Gargallo, Pablo Oltra Soler, Juan Silvestre Yáñez Peralta, Yania Juan Ribelles, Antonio Calabria, Inés Segura, Vanessa Lázaro, Marián Balaguer Guill, Julia Tormo, Teresa Dolz, Sandra Fernández, José María Fuentes, Carolina Torres, Bárbara Andrés, Mara Tasso, María Castel Sánchez, Victoria Font de Mora Saínz, Jaime Cañete Nieto, Adela 2021 Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care Cancers 13 21 5339; https://hdl.handle.net/10550/82395Test; 151535 |
| DOI: | 10.3390/cancers13215339 |
| الإتاحة: | https://doi.org/10.3390/cancers13215339Test https://hdl.handle.net/10550/82395Test |
| حقوق: | open access |
| رقم الانضمام: | edsbas.EA461DB5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/cancers13215339 |
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