The two faces of BRCA2, a FANCtastic discovery

Grant Stewart; Stephen J Elledge

doi:10.1016/s1097-2765(02)00580-4

The two faces of BRCA2, a FANCtastic discovery

Mol Cell. 2002 Jul;10(1):2-4. doi: 10.1016/s1097-2765(02)00580-4.

Authors

Grant Stewart¹, Stephen J Elledge

Affiliation

¹ Howard Hughes Medical Institute, Verna and Marrs McLean Department of Biochemistry and Molecular Biology, One Baylor Plaza, Houston, TX 77030, USA.

PMID: 12150898
DOI: 10.1016/s1097-2765(02)00580-4

Abstract

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.

MeSH terms

Animals
BRCA2 Protein / genetics*
DNA Damage*
DNA Repair*
Fanconi Anemia / genetics*
Fanconi Anemia / pathology
Fanconi Anemia Complementation Group D2 Protein
Genetic Predisposition to Disease / genetics*
Humans
Mitomycin / pharmacology
Nuclear Proteins / genetics
Nuclear Proteins / metabolism

Substances

BRCA2 Protein
FANCD2 protein, human
Fanconi Anemia Complementation Group D2 Protein
Nuclear Proteins
Mitomycin