UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study

Lloyd, Philippa; Westcott, Mark; Kaliki, Swathi; Ji, Xunda; Zou, Yihua; Rashid, Riffat; Sultana, Sadia; ... Reddy, M Ashwin; + view all (2022) The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study. Eye 10.1038/s41433-022-01992-w. Green open access

[thumbnail of s41433-022-01992-w.pdf]
Preview
Text
s41433-022-01992-w.pdf - Published Version

Download (552kB) | Preview

Abstract

BACKGROUND/OBJECTIVES: Retinoblastoma is a common childhood intraocular malignancy, the bilateral form of which most commonly results from a de novo germline pathogenic variant in the RB1 gene. Both advanced maternal age and decreasing birth order are known to increase the risk of de novo germline pathogenic variants, while the influence of national wealth is understudied. This cohort study aimed to retrospectively observe whether these factors influence the ratio of bilateral retinoblastoma cases compared to unilateral retinoblastoma, thereby inferring an influence on the development of de novo germline pathogenic variants in RB1. SUBJECTS/METHODS: Data from 688 patients from 11 centres in 10 countries were analysed using a series of statistical methods. RESULTS: No associations were found between advanced maternal age, birth order or GDP per capita and the ratio of bilateral to unilateral retinoblastoma cases (p values = 0.534, 0.201, 0.067, respectively), indicating that these factors do not contribute to the development of a de novo pathogenic variant. CONCLUSIONS: Despite a lack of a definitive control group and genetic testing, this study demonstrates that advanced maternal age, birth order or GDP per capita do not influence the risk of developing a bilateral retinoblastoma.

Type: Article
Title: The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41433-022-01992-w
Publisher version: https://doi.org/10.1038/s41433-022-01992-w
Language: English
Additional information: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10146779
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item