Article
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science (New York, N.Y.) - 26 Jul 2002
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 excerpt
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...
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