The two faces of BRCA2, a FANCtastic discovery.
The molecular defects responsible for the cancer predisposition syndrome Fanconi's Anemia (FA) have been elusive. A recent study reports that the FANC-B and -D1 subgroups result from hypomorphic mutations in BRCA2. Given that BRCA2 protein participates in homologous recombination, this finding connects at least a subset of the FA phenotypes to defective DNA repair.
Stewart
Grant
G
Howard Hughes Medical Institute, Verna and Marrs McLean Department of Biochemistry and Molecular Biology, One Baylor Plaza, Houston, TX 77030, USA.
Elledge
Stephen J
SJ
D000818:Animals; D024682:BRCA2 Protein / Q000235:genetics*; D004249:DNA Damage; D004260:DNA Repair; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D052236:Fanconi Anemia Complementation Group D2 Protein; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D016685:Mitomycin / Q000494:pharmacology; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism
D024682:BRCA2 Protein; C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein; D009687:Nuclear Proteins; D016685:Mitomycin