Biallelic inactivation of BRCA2 in Fanconi anemia |
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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 |
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Institution: | Department of Pediatric Oncology, Children's Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA. |
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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. |
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