D-Day for BRCA2

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Science  26 Jul 2002:
Vol. 297, Issue 5581, pp. 534
DOI: 10.1126/science.1074482

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Individuals with certain mutations in the gene BRCA2 are at a very high risk for developing breast cancer because a DNA repair pathway cannot properly repair ongoing wear and tear to the DNA. In their Perspective, Witt and Ashworth discuss new findings ( Howlett et al.) showing that other mutations in this same BRCA2 gene are one cause of another disease, Fanconi anemia, also thought to be a result of defective DNA repair. This unexpected result identifies BRCA2 as a central control point in the DNA repair mechanism of cells, which maintains the stability of the genome.