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

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...

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Autores principales:	Pablo Gargallo, Silvestre Oltra, Yania Yáñez, Antonio Juan-Ribelles, Inés Calabria, Vanessa Segura, Marián Lázaro, Julia Balaguer, Teresa Tormo, Sandra Dolz, José María Fernández, Carolina Fuentes, Bárbara Torres, Mara Andrés, María Tasso, Victoria Castel, Jaime Font de Mora, Adela Cañete
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	genetic predisposition genetic syndrome pediatric oncology germline hereditary cancer genetic counseling Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/a7f124bedf9f4451910c25d01f1eed0f
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spelling	oai:doaj.org-article:a7f124bedf9f4451910c25d01f1eed0f2021-11-11T15:28:40ZGermline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care10.3390/cancers132153392072-6694https://doaj.org/article/a7f124bedf9f4451910c25d01f1eed0f2021-10-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/21/5339https://doaj.org/toc/2072-6694Knowledge 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, <i>OncoNano V2</i>. 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.Pablo GargalloSilvestre OltraYania YáñezAntonio Juan-RibellesInés CalabriaVanessa SeguraMarián LázaroJulia BalaguerTeresa TormoSandra DolzJosé María FernándezCarolina FuentesBárbara TorresMara AndrésMaría TassoVictoria CastelJaime Font de MoraAdela CañeteMDPI AGarticlegenetic predispositiongenetic syndromepediatric oncologygermlinehereditary cancergenetic counselingNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5339, p 5339 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	genetic predisposition genetic syndrome pediatric oncology germline hereditary cancer genetic counseling Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	genetic predisposition genetic syndrome pediatric oncology germline hereditary cancer genetic counseling Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Pablo Gargallo Silvestre Oltra Yania Yáñez Antonio Juan-Ribelles Inés Calabria Vanessa Segura Marián Lázaro Julia Balaguer Teresa Tormo Sandra Dolz José María Fernández Carolina Fuentes Bárbara Torres Mara Andrés María Tasso Victoria Castel Jaime Font de Mora Adela Cañete Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
description	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, <i>OncoNano V2</i>. 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.
format	article
author	Pablo Gargallo Silvestre Oltra Yania Yáñez Antonio Juan-Ribelles Inés Calabria Vanessa Segura Marián Lázaro Julia Balaguer Teresa Tormo Sandra Dolz José María Fernández Carolina Fuentes Bárbara Torres Mara Andrés María Tasso Victoria Castel Jaime Font de Mora Adela Cañete
author_facet	Pablo Gargallo Silvestre Oltra Yania Yáñez Antonio Juan-Ribelles Inés Calabria Vanessa Segura Marián Lázaro Julia Balaguer Teresa Tormo Sandra Dolz José María Fernández Carolina Fuentes Bárbara Torres Mara Andrés María Tasso Victoria Castel Jaime Font de Mora Adela Cañete
author_sort	Pablo Gargallo
title	Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
title_short	Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
title_full	Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
title_fullStr	Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
title_full_unstemmed	Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
title_sort	germline predisposition to pediatric cancer, from next generation sequencing to medical care
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a7f124bedf9f4451910c25d01f1eed0f
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Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

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