STANDARD_NAME	MATHEW_FANCONI_ANEMIA_GENES
SYSTEMATIC_NAME	M12972
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/MATHEW_FANCONI_ANEMIA_GENES
NAMESPACE	HUMAN_GENE_SYMBOL
DESCRIPTION_BRIEF	Genes identified with the Fanconi anemia (FA) and the FA pathway.
DESCRIPTION_FULL	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.
PMID	16998502
GEOID	
AUTHORS	Mathew CG
CONTRIBUTOR	Arthur Liberzon
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 1
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	BRCA2,BRIP1,FANCA,FANCB,FANCC,FANCD1,FANCD2,FANCE,FANCF,FANCG,FANCJ,FANCL,FANCM
GENE_SYMBOLS	BRCA2,BRIP1,FANCA,FANCB,FANCC,BRCA2,FANCD2,FANCE,FANCF,FANCG,BRIP1,FANCL,FANCM
FOUNDER_NAMES