Show simple item record

dc.contributor.authorWoodward, Emma R.; orcid: 0000-0002-6297-2855; email: stefan.meyer@manchester.ac.uk
dc.contributor.authorMeyer, Stefan; orcid: 0000-0002-2283-3690; email: emma.woodward@mft.nhs.uk
dc.date.accessioned2021-09-29T01:36:17Z
dc.date.available2021-09-29T01:36:17Z
dc.date.issued2021-09-27
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625977/genes-12-01520-v2.pdf?sequence=2
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625977/additional-files.zip?sequence=3
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625977/genes-12-01520.xml?sequence=4
dc.identifier.citationGenes, volume 12, issue 10, page e1520
dc.identifier.urihttp://hdl.handle.net/10034/625977
dc.descriptionFrom MDPI via Jisc Publications Router
dc.descriptionHistory: accepted 2021-09-25, pub-electronic 2021-09-27
dc.descriptionPublication status: Published
dc.descriptionFunder: Fanconi Hope, UK; Grant(s): 01-2020
dc.description.abstractFanconi anaemia (FA) is an inherited chromosomal instability disorder characterised by congenital and developmental abnormalities and a strong cancer predisposition. In less than 5% of cases FA can be caused by bi-allelic pathogenic variants (PGVs) in BRCA2/FANCD1 and in very rare cases by bi-allelic PGVs in BRCA1/FANCS. The rarity of FA-like presentation due to PGVs in BRCA2 and even more due to PGVs in BRCA1 supports a fundamental role of the encoded proteins for normal development and prevention of malignant transformation. While FA caused by BRCA1/2 PGVs is strongly associated with distinct spectra of embryonal childhood cancers and AML with BRCA2-PGVs, and also early epithelial cancers with BRCA1 PGVs, germline variants in the BRCA1/2 genes have also been identified in non-FA childhood malignancies, and thereby implying the possibility of a role of BRCA PGVs also for non-syndromic cancer predisposition in children. We provide a concise review of aspects of the clinical and genetic features of BRCA1/2-associated FA with a focus on associated malignancies, and review novel aspects of the role of germline BRCA2 and BRCA1 PGVs occurring in non-FA childhood cancer and discuss aspects of clinical and biological implications.
dc.languageen
dc.publisherMDPI
dc.rightsLicence for this article: https://creativecommons.org/licenses/by/4.0/
dc.sourceeissn: 2073-4425
dc.subjectfanconi anaemia
dc.subjectBRCA1
dc.subjectBRCA2
dc.subjectchildhood cancer
dc.titleFanconi Anaemia, Childhood Cancer and the BRCA Genes
dc.typearticle
dc.date.updated2021-09-29T01:36:17Z
dc.date.accepted2021-09-25


Files in this item

Thumbnail
Name:
genes-12-01520-v2.pdf
Size:
563.8Kb
Format:
PDF
Thumbnail
Name:
additional-files.zip
Size:
82.67Kb
Format:
Unknown
Thumbnail
Name:
genes-12-01520.xml
Size:
6.830Kb
Format:
XML

This item appears in the following Collection(s)

Show simple item record