Affiliation
Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, ManchesterIssue Date
2021
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Show full item recordAbstract
Fanconi 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.Citation
Woodward ER, Meyer S. Fanconi Anaemia, Childhood Cancer and the BRCA Genes [Internet]. Vol. 12, Genes. MDPI AG; 2021. p. 1520.Journal
GenesDOI
10.3390/genes12101520PubMed ID
34680915Additional Links
https://dx.doi.org/10.3390/genes12101520Type
ArticleLanguage
enae974a485f413a2113503eed53cd6c53
10.3390/genes12101520
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