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Fanconi Anaemia, Childhood Cancer and the BRCA Genes.

Genes - 27 Sept 2021

Woodward Emma R, Meyer Stefan

Abstract excerpt

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...

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PMID: 34680915
DOI: 10.3390/genes12101520
PMCID: PMC8535386

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