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Consensus Statement...
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
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- Toledo, Rodrigo A. (författare)
- University of Texas Health Science Centre San Antonio, TX 78229 USA; CNIO, Spain
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- Burnichon, Nelly (författare)
- Hop Europeen Georges Pompidou, France; University of Paris 05, France; Paris Cardiovasc Research Centre PARCC, France
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- Cascon, Alberto (författare)
- Spanish National Cancer Research Centre CNIO, Spain; ISCIII Centre Biomed Research Rare Disease CIBERER, Spain
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- Benn, Diana E. (författare)
- University of Sydney, Australia
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- Bayley, Jean-Pierre (författare)
- Leiden University, Netherlands
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- Welander, Jenny (författare)
- Linköpings universitet,Avdelningen för mikrobiologi och molekylär medicin,Medicinska fakulteten
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- Tops, Carli M. (författare)
- Leiden University, Netherlands
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- Firth, Helen (författare)
- University of Cambridge, England; NIHR Cambridge Biomed Research Centre, England
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- Dwight, Trish (författare)
- University of Sydney, Australia
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- Ercolino, Tonino (författare)
- University of Florence, Italy
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- Mannelli, Massimo (författare)
- University of Florence, Italy
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- Opocher, Giuseppe (författare)
- IRCCS, Italy
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- Clifton-Bligh, Roderick (författare)
- University of Sydney, Australia
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- Gimm, Oliver, 1967- (författare)
- Linköpings universitet,Avdelningen för Kirurgi, Ortopedi och Onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US
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- Maher, Eamonn R. (författare)
- University of Cambridge, England; NIHR Cambridge Biomed Research Centre, England
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- Robledo, Mercedes (författare)
- Spanish National Cancer Research Centre CNIO, Spain; ISCIII Centre Biomed Research Rare Disease CIBERER, Spain
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- Gimenez-Roqueplo, Anne-Paule (författare)
- Hop Europeen Georges Pompidou, France; University of Paris 05, France; Paris Cardiovasc Research Centre PARCC, France
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- Dahia, Patricia L. M. (författare)
- University of Texas Health Science Centre San Antonio, TX 78229 USA
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(creator_code:org_t)
- 2016-11-18
- 2017
- Engelska.
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Ingår i: Nature Reviews Endocrinology. - : NATURE PUBLISHING GROUP. - 1759-5029 .- 1759-5037. ; 13:4, s. 233-247
- Relaterad länk:
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https://liu.diva-por... (primary) (Raw object)
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Phaeochromocytomas and paragangliomas (PPGLs) are neural-crest-derived tumours of the sympathetic or parasympathetic nervous system that are often inherited and are genetically heterogeneous. Genetic testing is recommended for patients with these tumours and for family members of patients with hereditary forms of PPGLs. Due to the large number of susceptibility genes implicated in the diagnosis of inherited PPGLs, next-generation sequencing (NGS) technology is ideally suited for carrying out genetic screening of these individuals. This Consensus Statement, formulated by a study group comprised of experts in the field, proposes specific recommendations for the use of diagnostic NGS in hereditary PPGLs. In brief, the study group recommends target gene panels for screening of germ line DNA, technical adaptations to address different modes of disease transmission, orthogonal validation of NGS findings, standardized classification of variant pathogenicity and uniform reporting of the findings. The use of supplementary assays, to aid in the interpretation of the results, and sequencing of tumour DNA, for identification of somatic mutations, is encouraged. In addition, the study group launches an initiative to develop a gene-centric curated database of PPGL variants, with annual re-evaluation of variants of unknown significance by an expert group for purposes of reclassification and clinical guidance.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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Toledo, Rodrigo ...
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Burnichon, Nelly
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Cascon, Alberto
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Benn, Diana E.
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Bayley, Jean-Pie ...
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Welander, Jenny
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visa fler...
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Tops, Carli M.
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Firth, Helen
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Dwight, Trish
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Ercolino, Tonino
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Mannelli, Massim ...
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Opocher, Giusepp ...
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Clifton-Bligh, R ...
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Gimm, Oliver, 19 ...
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Maher, Eamonn R.
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Robledo, Mercede ...
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Gimenez-Roqueplo ...
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Dahia, Patricia ...
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