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dc.contributor.authorWoodward, E. R.
dc.contributor.authorMeyer, Stefan
dc.date.accessioned2021-11-26T10:04:40Z
dc.date.available2021-11-26T10:04:40Z
dc.date.issued2021en
dc.identifier.citationWoodward ER, Meyer S. Fanconi Anaemia, Childhood Cancer and the BRCA Genes [Internet]. Vol. 12, Genes. MDPI AG; 2021. p. 1520.en
dc.identifier.pmid34680915en
dc.identifier.doi10.3390/genes12101520en
dc.identifier.urihttp://hdl.handle.net/10541/624772
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.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.3390/genes12101520en
dc.titleFanconi anaemia, childhood cancer and the BRCA genesen
dc.typeArticleen
dc.contributor.departmentManchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchesteren
dc.identifier.journalGenesen
dc.description.noteen]
refterms.dateFOA2021-12-01T09:52:33Z


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