Systematic name M12972
Brief description Genes identified with the Fanconi anemia (FA) and the FA pathway.
Full description or 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.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 16998502   Authors: Mathew CG
Exact source Table 1
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Source species Homo sapiens
Contributed by Arthur Liberzon (MSigDB Team)
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Version history 3.0: First introduced

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