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- W1976629892 abstract "Fanconi anaemia (FA) is a rare recessive disorder associated with chromosomal fragility, aplastic anaemia, congenital abnormalities and a high risk of cancer, including acute myeloid leukaemia and squamous cell carcinomas. The identification of 11 different FA genes has revealed a complex web of interacting proteins that are involved in the recognition or repair of DNA interstrand crosslinks and perhaps other forms of DNA damage. Bi-allelic mutations in BRCA2 are associated with a rare and highly cancer-prone form of FA, and the DNA helicase BRIP1 (formerly BACH1) is mutated in FA group J. There is little convincing evidence that FA heterozygotes are at increased risk of cancer, but larger studies are needed to address the possibility of modest risk effects. Somatic inactivation of the FA pathway by mutation or epigenetic silencing has been observed in several different types of sporadic cancer, and this may have important implications for targeted chemotherapy. Inhibition of this pathway represents a possible route to sensitization of tumours to DNA crosslinking drugs such as cisplatin." @default.
- W1976629892 created "2016-06-24" @default.
- W1976629892 creator A5027231153 @default.
- W1976629892 date "2006-09-25" @default.
- W1976629892 modified "2023-10-17" @default.
- W1976629892 title "Fanconi anaemia genes and susceptibility to cancer" @default.
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- W1976629892 doi "https://doi.org/10.1038/sj.onc.1209878" @default.
- W1976629892 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16998502" @default.
- W1976629892 hasPublicationYear "2006" @default.
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