Coriell Institute for Medical Research
Gene OMIM Phenotype OMIM #
ATM Ataxia-Telangiectasia 208900
BRCA1 Breast Cancer, Type 1 113705
BRCA2 Breast Cancer, Type 2, early onset 600185
FANCA Fanconi Anemia, complementation group A 607139
FANCB Fanconi Anemia, complementation group B; BRCA2 227660
FANCC Fanconi Anemia, complementation group C 227645
FANCD1 Fanconi Anemia, complementation group D1; BRCA2 605724
FANCD2 Fanconi Anemia, complementation group D2 227646
FANCE Fanconi Anemia, complementation group E 600901
FANCF Fanconi Anemia, complementation group F 603467
FANCG Fanconi Anemia, complementation group G; XRCC9 602956
NBS1 Nijmegen Breakage Syndrome 602667
Fanconi Anemia has 8 identified complementation groups (A, B, C, D1, D2, E, F, and G) and genes for at least 7 of these groups have been identified. Fanconi anemia genes, FancB and FancD1, have been identified as the Early Onset Breast Cancer gene BRCA2. Five of the Fanconi Anemia genes (FancA, FancC, FancE, FancF, and FancG) form a complex which interacts with DNA and leads to the mono-ubiquitination of the FancD2 protein. Through an association with BRCA1 and BRCA2 in nuclear loci (represented by the light blue area in the diagram) this leads to activation of the processes that lead to DNA repair. The ATM kinase can be activated by ionizing radiation, which in turn activates many targets. One of these, the FancD2 protein, is phosphorylated by ATM, which then leads to S phase arrest. An additional link in this pathway includes the phosphorylation by ATM of the protein encoded by the gene of the Nijmegen Breakage Syndrome (NBS1) and BRCA1. The NBS1 protein is part of a complex which, in turn, also leads to phosphorylation of FancD2 by ATM. NBS1 appears to have two independent functions, one in inducing S-phase arrest where FancD2 is not required and the second in interacting with FancD2 in promoting DNA repair (see dashed arrow in diagram). Thus, FancD2 is at the cross roads of two pathways -- one leading to S phase arrest which functions from ATM through NBS 1 and associated proteins and the other in response to DNA damage acting through the Fanconi complex

Ahmad,S.I., Hanaoka,F., and Kirk,S.H. (2002). Molecular biology of Fanconi anaemia--an old problem, a new insight. Bioessays 24, 439-448.   Abstract
D'Andrea,A.D. and Grompe,M. (2003). The Fanconi anaemia/BRCA pathway. Nat. Rev. Cancer 3, 23-34.   Abstract
Tischkowitz,M.D. and Hodgson,S.V. (2003). Fanconi anaemia. J. Med. Genet. 40, 1-10.   Abstract

Our mission is to prevent and cure disease through biomedical research.


CUSTOMER SERVICE (800) 752-3805 (856) 757-4848

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2024 Coriell Institute. All rights reserved.