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Patient understanding of genetic information influences reproductive decision making in retinoblastoma.
Foster, A; Boyes, L; Burgess, L; Carless, S; Bowyer, V; Jenkinson, H; Parulekar, M; Ainsworth, J; Hungerford, J; Onadim, Z; Sagoo, M; Rosser, E; Reddy, M A; Cole, T.
Afiliación
  • Foster A; Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Boyes L; Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Burgess L; Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Carless S; Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Bowyer V; Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Jenkinson H; Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Parulekar M; Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Ainsworth J; Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Hungerford J; Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK.
  • Onadim Z; Moorfields Eye Hospital NHS Trust, London, UK.
  • Sagoo M; Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, London, UK.
  • Rosser E; Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK.
  • Reddy MA; Moorfields Eye Hospital NHS Trust, London, UK.
  • Cole T; UCL Institute of Ophthalmology, London, UK.
Clin Genet ; 92(6): 587-593, 2017 Dec.
Article en En | MEDLINE | ID: mdl-28397259
BACKGROUND: Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17% to 18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. MATERIAL AND METHODS: We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16 to 45 years were included. RESULTS: Patients with bilateral disease were significantly more likely to understand the implications of retinoblastoma for siblings and children. There was a significant association between not knowing the results of genetic testing or not understanding the implications and not having children, particularly in women. Surprisingly, this was also true for individuals treated for unilateral disease with a low risk of retinoblastoma for their offspring. CONCLUSION: We are concerned that individuals may be making life choices based on insufficient information regarding risks of retinoblastoma and reproductive options. We suggest that improvement in transition care is needed to enable individuals to make informed reproductive decisions and to ensure optimal care for children born at risk of retinoblastoma.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinoblastoma / Conocimientos, Actitudes y Práctica en Salud / Mutación de Línea Germinal / Neoplasias de la Retina / Ubiquitina-Proteína Ligasas / Servicios de Planificación Familiar / Proteínas de Unión a Retinoblastoma Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinoblastoma / Conocimientos, Actitudes y Práctica en Salud / Mutación de Línea Germinal / Neoplasias de la Retina / Ubiquitina-Proteína Ligasas / Servicios de Planificación Familiar / Proteínas de Unión a Retinoblastoma Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article Pais de publicación: Dinamarca