International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
| Autor: | Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher |
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| Přispěvatelé: | Institut Català de la Salut, [Ben Aim L] Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. [Maher ER] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. [Cascon A] Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. [Barlier A] Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. [Giraud S] Department of Genetics, Hospices Civils de Lyon, Bron, France. [Ercolino T] Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. [Toledo RA] CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Maher, Eamonn R [0000-0002-6226-6918], Pigny, Pascal [0000-0003-3926-4487], Bayley, Jean Pierre [0000-0002-8288-0050], Burnichon, Nelly [0000-0001-7972-5845], Apollo - University of Cambridge Repository |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
medicine.medical_specialty
Neoplasms::Neoplasms by Histologic Type::Neoplasms Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma [DISEASES] databases SDHB Adrenal Gland Neoplasms human genetics Neoplasms::Neoplasms by Histologic Type::Neoplasms Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma [DISEASES] Context (language use) adrenal gland diseases Pheochromocytoma computer.software_genre Glàndules suprarenals - Malalties - Aspectes genètics genetic testing Paraganglioma neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma [ENFERMEDADES] Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] Genetics medicine Humans Cancer genetics Genetics (clinical) Germ-Line Mutation Genetic testing Hereditary Paraganglioma Database medicine.diagnostic_test neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales [ENFERMEDADES] business.industry neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma [ENFERMEDADES] Cromosomes humans - Anomalies - Diagnòstic diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] medicine.disease Human genetics Succinate Dehydrogenase genetic variation Medical genetics genetic Leiden Open Variation Database business Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms [DISEASES] computer Tumors neuroendocrins - Aspectes genètics |
| Zdroj: | Scientia Journal of Medical Genetics. BMJ PUBLISHING GROUP Journal of Medical Genetics |
| Popis: | Funder: Cancer Research UK Cambridge Cancer Centre Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients and relatives due to the increased risk of recurrences, metastases and the emergence of non-PPGL tumours. In this context, the ‘NGS and PPGL (NGSnPPGL) Study Group’ initiated an international effort to collect, annotate and classify SDHB variants and to provide an accurate, expert-curated and freely available SDHB variant database. Methods: A total of 223 distinct SDHB variants from 737 patients were collected worldwide. Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and NGSnPPGL standardised recommendations and was then manually reviewed by a panel of experts in the field. Results: This multistep process resulted in 23 benign/likely benign, 149 pathogenic/likely pathogenic variants and 51 variants of unknown significance (VUS). Expert curation reduced by half the number of variants initially classified as VUS. Variant classifications are publicly accessible via the Leiden Open Variation Database system (https://databases.lovd.nl/shared/genes/SDHB). Conclusion: This international initiative by a panel of experts allowed us to establish a consensus classification for 223 SDHB variants that should be used as a routine tool by geneticists in charge of PPGL laboratory diagnosis. This accurate classification of SDHB genetic variants will help to clarify the diagnosis of hereditary PPGL and to improve the clinical care of patients and relatives with PPGL. |
| Databáze: | OpenAIRE |
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