Brazilian Journal of Genetics
Print version ISSN 0100-8455
On-line version ISSN 1678-4502
MACHADO, Carlos R. and MENCK, Carlos F.M.. Human DNA repair diseases: From genome instability to cancer. Braz. J. Genet. [online]. 1997, vol.20, n.4, pp.-. ISSN 0100-8455. http://dx.doi.org/10.1590/S0100-84551997000400032.
Several human genetic syndromes have long been recognized to be defective in DNA repair mechanisms. This was first discovered by Cleaver (1968), who showed that cells from patients with xeroderma pigmentosum (XP) were defective for the ability to remove ultraviolet (UV)-induced lesions from their genome. Since then, new discoveries have promoted DNA repair studies to one of the most exciting areas of molecular biology. The present work intends to give a brief summary of the main known human genetic diseases related to DNA repair and how they may be linked to acquired diseases such as cancer