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Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

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Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

dc.contributor.author	Gargallo, Pablo
dc.contributor.author	Oltra Soler, Juan Silvestre
dc.contributor.author	Yáñez Peralta, Yania
dc.contributor.author	Juan Ribelles, Antonio
dc.contributor.author	Calabria, Inés
dc.contributor.author	Segura, Vanessa
dc.contributor.author	Lázaro, Marián
dc.contributor.author	Balaguer Guill, Julia
dc.contributor.author	Tormo, María Teresa
dc.contributor.author	Dolz, Sandra
dc.contributor.author	Fernández, José María
dc.contributor.author	Fuentes, Carolina
dc.contributor.author	Torres, Bárbara
dc.contributor.author	Andrés, Mara
dc.contributor.author	Tasso, María
dc.contributor.author	Castel Sánchez, Victoria
dc.contributor.author	Font de Mora Saínz, Jaime
dc.contributor.author	Cañete Nieto, Adela
dc.date.accessioned	2022-04-26T13:27:26Z
dc.date.available	2022-04-26T13:27:26Z
dc.date.issued	2021
dc.identifier.citation	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
dc.identifier.uri	https://hdl.handle.net/10550/82395
dc.description.abstract	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.
dc.language.iso	eng
dc.relation.ispartof	Cancers, 2021, vol. 13, num. 21, p. 5339
dc.subject	Genètica
dc.subject	Càncer en els infants
dc.title	Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
dc.type	journal article	es_ES
dc.date.updated	2022-04-26T13:27:26Z
dc.identifier.doi	10.3390/cancers13215339
dc.identifier.idgrec	151535
dc.rights.accessRights	open access	es_ES