Medical Perspectives: DNA Damage and repair

With the previous processes we covered there was almost no chance of seeing a patient deficient in any part of the basic machinery. With DNA repair this is no longer so. There are two reasons for this. First, unlike the other processes, repair is not part of the basic machinery that handles information in the cell, so a lack does not automatically imply death. Secondly, almost all types of DNA damage can be fixed by more than one mechanism. If one pathway is missing, another can compensate. However, this has consequences. The consequences of partial failure of the DNA repair machinery is manifested in a set of genetic predispositions to cancer, and is associated with accumulating repair failure during tumor progression.

You will need to be familiar with the syndromes listed below.