Biallelic inactivation of BRCA2 in Fanconi anemia - PubMed (original) (raw)

. 2002 Jul 26;297(5581):606-9.

doi: 10.1126/science.1073834. Epub 2002 Jun 13.

Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine De Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda, Edward A Fox, Alan D D'Andrea

Affiliations

• PMID: 12065746
• DOI: 10.1126/science.1073834

Biallelic inactivation of BRCA2 in Fanconi anemia

Niall G Howlett et al. Science. 2002.

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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Comment in

• Biomedicine. D-Day for BRCA2.
  Witt E, Ashworth A. Witt E, et al. Science. 2002 Jul 26;297(5581):534. doi: 10.1126/science.1074482. Epub 2002 Jun 13. Science. 2002. PMID: 12065747 No abstract available.

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