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Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
Taylor, Amy; Brady, Angela F; Frayling, Ian M; Hanson, Helen; Tischkowitz, Marc; Turnbull, Clare; Side, Lucy.
Afiliación
  • Taylor A; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Brady AF; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, Harrow, UK.
  • Frayling IM; All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Hanson H; Institute of Cancer & Genetics, Cardiff University, Cardiff, UK.
  • Tischkowitz M; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
  • Turnbull C; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Side L; Department of Medical Genetics, University of Cambridge, Cambridge, UK.
J Med Genet ; 55(6): 372-377, 2018 06.
Article en En | MEDLINE | ID: mdl-29661970
ABSTRACT
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services. Using a preworkshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services. To support consistency in the delivery of these tests and advice given to families across the country, we also developed management proposals for individuals who are found to have pathogenic mutations in these genes. However, we fully acknowledge that the decision regarding what test is most appropriate for an individual family rests with the clinician, and will depend on factors including specific phenotypic features and the family structure.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Guías como Asunto / Predisposición Genética a la Enfermedad / Neoplasias Tipo de estudio: Guideline / Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Guías como Asunto / Predisposición Genética a la Enfermedad / Neoplasias Tipo de estudio: Guideline / Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido