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- Title
Biallelic inactivation of BRCA2 in Fanconi anemia.
- Authors
Howlett, Niall G; Taniguchi, Toshiyasu; Olson, Susan; Cox, Barbara; Waisfisz, Quinten; De Die-Smulders, Christine; Persky, Nicole; Grompe, Markus; Joenje, Hans; Pals, Gerard; Ikeda, Hideyuki; Fox, Edward A; D'Andrea, Alan D
- 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.
- Publication
Science (New York, N.Y.), 2002, Vol 297, Issue 5581, p606
- ISSN
1095-9203
- Publication type
Journal Article
- DOI
10.1126/science.1073834