Ontology highlight
ABSTRACT:
SUBMITTER: Boisvert RA
PROVIDER: S-EPMC4612647 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Cell cycle (Georgetown, Tex.) 20140101 19
Fanconi anemia (FA) is a rare recessive genetic disease characterized by congenital abnormalities, bone marrow failure and heightened cancer susceptibility in early adulthood. FA is caused by biallelic germ-line mutation of any one of 16 genes. While several functions for the FA proteins have been ascribed, the prevailing hypothesis is that the FA proteins function cooperatively in the FA-BRCA pathway to repair damaged DNA. A pivotal step in the activation of the FA-BRCA pathway is the monoubiqu ...[more]