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Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
University of Texas Health Science Centre San Antonio, TX 78229 USA; CNIO, Spain.
Hop Europeen Georges Pompidou, France; University of Paris 05, France; Paris Cardiovasc Research Centre PARCC, France.
Spanish National Cancer Research Centre CNIO, Spain; ISCIII Centre Biomed Research Rare Disease CIBERER, Spain.
University of Sydney, Australia.
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2017 (English)In: Nature Reviews Endocrinology, ISSN 1759-5029, E-ISSN 1759-5037, Vol. 13, no 4, p. 233-247Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2017. Vol. 13, no 4, p. 233-247
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Cancer and Oncology
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URN: urn:nbn:se:liu:diva-136039DOI: 10.1038/nrendo.2016.185ISI: 000396002800006PubMedID: 27857127OAI: oai:DiVA.org:liu-136039DiVA, id: diva2:1084895
Note

Funding Agencies|Cancer Prevention and Research Institute of Texas (CPRIT) [RP101202, RP57154]; Department of Defense [CDMRP W81XWH-12-1-0508]; Voelcker Fund; National Institutes of Health (NIH)s National Center for Research Resources; National Center for Advancing Translational Sciences [8UL1TR000149]; INSERM; French National Cancer Institute (INCA); Direction Generale de lOffre de Soins (DGOS); INCA [INCA-DGOS_8663]; European Union [633983]; Brazilian National Council for Scientific and Technological Development (CNPq); Cancer Research for PErsonalized Medicine (CARPEM); ERC Advanced Researcher Award

Available from: 2017-03-27 Created: 2017-03-27 Last updated: 2018-05-02

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Division of Microbiology and Molecular MedicineFaculty of Medicine and Health SciencesDivision of Surgery, Orthopedics and OncologyDepartment of Surgery in Linköping
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