caa a22 4500 445330929 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10689-011-9445-y doi (NATIONALLICENCE)springer-10.1007/s10689-011-9445-y Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up? [Elektronische Daten] [C. Serrano, J. Alonso, G. Gómez-Mariano, E. Aguirre, O. Diez, N. Gadea, N. Bosch, J. Balmaña, B. Graña] Hereditary retinoblastoma (Rb) is a high penetrance autosomal dominant disease showing not only an increased risk of suffering bilateral Rb but also other second neoplasms. However, some families show a low-penetrance phenotype with reduced expressivity and incomplete penetrance of the retinoblastoma gene (RB1). Given the lack of specific guidelines for the follow-up of adult patients with hereditary Rb, the authors present a case report of a family with a low-penetrance phenotype and review the recommended surveillance in this setting, stressing the difficulties found in the genetic counselling process and follow up. Thus, since patients are at an increased risk, lifelong regular medical surveillance to detect any second malignancy at a stage that can be cured is required. In addition, avoidance of DNA-damaging agents and genetic testing should be considered for a throughout management of these families. Springer Science+Business Media B.V., 2011 Genetic Counselling nationallicence Gene Testing nationallicence Low Penetrance nationallicence RB1 gene nationallicence Retinoblastoma nationallicence Second Neoplasms nationallicence Surveillance nationallicence LOH : Loss of heterozygosity nationallicence mRNA : Messenger ribonucleic acid nationallicence PCR : Polymerase chain reaction nationallicence Rb : Retinoblastoma nationallicence RB1 : Retinoblastoma gene nationallicence UV : Ultraviolet nationallicence Serrano C. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut Alonso J. Unidad de Tumores Sólidos Infantiles (BSD-TSI), Área de Biología Celular y del Desarrollo, Centro Nacional de Microbiología, Instituto de Salud Carlos III, Madrid, Spain aut Gómez-Mariano G. Unidad de Tumores Sólidos Infantiles (BSD-TSI), Área de Biología Celular y del Desarrollo, Centro Nacional de Microbiología, Instituto de Salud Carlos III, Madrid, Spain aut Aguirre E. Family Cancer Unit, Medical Oncology Department, Arnau de Vilanova Hospital, Lleida, Spain aut Diez O. Oncogenetics Laboratory, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Barcelona, Spain aut Gadea N. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut Bosch N. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut Balmaña J. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut Graña B. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut Familial Cancer Springer Netherlands 10/3(2011-09-01), 617-621 1389-9600 10:3<617 2011 10 10689 https://doi.org/10.1007/s10689-011-9445-y text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9445-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Serrano C. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut NATIONALLICENCE 700 1- Alonso J. Unidad de Tumores Sólidos Infantiles (BSD-TSI), Área de Biología Celular y del Desarrollo, Centro Nacional de Microbiología, Instituto de Salud Carlos III, Madrid, Spain aut NATIONALLICENCE 700 1- Gómez-Mariano G. Unidad de Tumores Sólidos Infantiles (BSD-TSI), Área de Biología Celular y del Desarrollo, Centro Nacional de Microbiología, Instituto de Salud Carlos III, Madrid, Spain aut NATIONALLICENCE 700 1- Aguirre E. Family Cancer Unit, Medical Oncology Department, Arnau de Vilanova Hospital, Lleida, Spain aut NATIONALLICENCE 700 1- Diez O. Oncogenetics Laboratory, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Barcelona, Spain aut NATIONALLICENCE 700 1- Gadea N. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut NATIONALLICENCE 700 1- Bosch N. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut NATIONALLICENCE 700 1- Balmaña J. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut NATIONALLICENCE 700 1- Graña B. High Risk and Cancer Prevention Unit, Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, P. Vall d'Hebron 119-129, 08035, Barcelona, Spain aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/3(2011-09-01), 617-621 1389-9600 10:3<617 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer