The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study Article Swipe
Philippa Lloyd
,
Mark Westcott
,
Swathi Kaliki
,
Xunda Ji
,
Yihua Zou
,
Riffat Rashid
,
Sadia Sultana
,
Sadik Taju Sherief
,
Nathalie Cassoux
,
Rosdali Yesenia Diaz Coronado
,
Juan Luis García León
,
Arturo Zapata
,
V. G. Polyakov
,
Tatiana L. Ushakova
,
Soma Rani Roy
,
Alia Ahmad
,
Lamis Al Harby
,
Jesse L. Berry
,
Jonathan Kim
,
Ashley Polski
,
Nick Astbury
,
Covadonga Bascarán
,
Sharon Blum
,
Richard Bowman
,
Matthew J. Burton
,
Allen Foster
,
Nir Gomel
,
Naama Keren‐Froim
,
Shiran Madgar
,
Andrew W. Stacey
,
Ashik Mohamed
,
Marcia Zondervan
,
Mandeep S. Sagoo
,
Ido Didi Fabian
,
M. Ashwin Reddy
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1038/s41433-022-01992-w
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1038/s41433-022-01992-w
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41433-022-01992-w
- https://www.nature.com/articles/s41433-022-01992-w.pdf
- OA Status
- hybrid
- Cited By
- 4
- References
- 49
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4220688539
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4220688539Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41433-022-01992-wDigital Object Identifier
- Title
-
The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre studyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-03-31Full publication date if available
- Authors
-
Philippa Lloyd, Mark Westcott, Swathi Kaliki, Xunda Ji, Yihua Zou, Riffat Rashid, Sadia Sultana, Sadik Taju Sherief, Nathalie Cassoux, Rosdali Yesenia Diaz Coronado, Juan Luis García León, Arturo Zapata, V. G. Polyakov, Tatiana L. Ushakova, Soma Rani Roy, Alia Ahmad, Lamis Al Harby, Jesse L. Berry, Jonathan Kim, Ashley Polski, Nick Astbury, Covadonga Bascarán, Sharon Blum, Richard Bowman, Matthew J. Burton, Allen Foster, Nir Gomel, Naama Keren‐Froim, Shiran Madgar, Andrew W. Stacey, Ashik Mohamed, Marcia Zondervan, Mandeep S. Sagoo, Ido Didi Fabian, M. Ashwin ReddyList of authors in order
- Landing page
-
https://doi.org/10.1038/s41433-022-01992-wPublisher landing page
- PDF URL
-
https://www.nature.com/articles/s41433-022-01992-w.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://www.nature.com/articles/s41433-022-01992-w.pdfDirect OA link when available
- Concepts
-
Retinoblastoma, Medicine, Germline, Malignancy, Pediatrics, Cohort, Genetics, Internal medicine, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
4Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2, 2024: 1, 2022: 1Per-year citation counts (last 5 years)
- References (count)
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49Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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