Biallelic Inactivation of BRCA2 in Fanconi Anemia
Top Cited Papers
- 26 July 2002
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 297 (5581), 606-609
- https://doi.org/10.1126/science.1073834
Abstract
Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-type BRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2 in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families with BRCA1 or BRCA2 mutations.Keywords
This publication has 23 references indexed in Scilit:
- Convergence of the Fanconi Anemia and Ataxia Telangiectasia Signaling PathwaysCell, 2002
- Brca2 (XRCC11) Deficiency Results in Radioresistant DNA Synthesis and a Higher Frequency of Spontaneous DeletionsMolecular and Cellular Biology, 2002
- The emerging genetic and molecular basis of Fanconi anaemiaNature Reviews Genetics, 2001
- Role of BRCA2 in Control of the RAD51 Recombination and DNA Repair ProteinMolecular Cell, 2001
- RING Finger ProteinsCell, 2000
- Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutationNature Genetics, 1997
- Evidence for at Least Eight Fanconi Anemia GenesAmerican Journal of Human Genetics, 1997
- Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos.Genes & Development, 1997
- A polymorphic stop codon in BRCA2Nature Genetics, 1996
- Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9Nature Genetics, 1992