Retinoblastoma gene mutations and risk of secondary primary tumours
Research type
Research Study
Full title
Retinoblastoma gene mutations and risk of secondary primary tumours
IRAS ID
216615
Contact name
Zerrin Onadim
Contact email
Sponsor organisation
Joint Research Management Office
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Retinoblastoma is a cancer of the eye occurring in children. In Britain, more than 95% of patients with this disease survive for more than five years. For patients with the heritable form of retinoblastoma the most important problem for those who are successfully treated is that there is very high rate of second primary tumours (SPTs). Heritable retinoblastomas are attributable to mutations on the RB1 gene; different mutations appear to be associated with different risks of SPT. The main objective of the proposed study will be to investigate the relation between types of RB1 mutation and the rates of occurrence of SPTs. Records from three sources will be needed for these analyses: clinical records for successfully treated patients; laboratory records of mutations; follow-up records, including particularly those relating to the occurrence of further tumours. In this first stage of the study we shall collect information relating to patients treated by Dr Judith Kingston and her colleagues in London; this is in fact a large proportion of the total number of patients in Britain over the past few decades. Mutation data relating to these patients are held mainly at the Royal London Hospital in the laboratory directed by Dr Zerrin Onadim. This is one of the world’s most important sets of data on RB1 mutations. Records of follow-up and of SPTs are held in the National Registry of Childhood Tumours – now part of the Richard Doll Archive, and within the Public Health England Cancer Registration system . Data files will be set up to make it possible for records from the three sources listed above to be (temporarily) linked. The linkage and the proposed analyses will be carried out in the second stage of the study. It is not envisaged that the different datasets will become part of the same database.
REC name
London - Fulham Research Ethics Committee
REC reference
18/LO/0490
Date of REC Opinion
29 Mar 2018
REC opinion
Favourable Opinion