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Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences.

Genes - 21 Dec 2020

García-de-Teresa Benilde, Rodríguez Alfredo, Frias Sara

Abstract excerpt

Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited pathogenic variants in any of 22 FANC genes, which cooperate in the FA/BRCA pathway. This pathway regulates the repair of DNA interstrand crosslinks (ICLs) through homologous recombination. In FA proper repair of ICLs is impaired and accumulation of toxic DNA double strand breaks occurs. To repair this type of DNA damage, FA cells...

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Source

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Identifiers

PMID: 33371494
DOI: 10.3390/genes11121528
PMCID: PMC7767525

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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