Cancer prone diseases

Abstract

A handfull of rare genetic diseases associate chromosome instability, DNA replication and/or repair anomalies, some shared clinical features, and an increased risk of cancer. These diseases are characterized by a high level of spontaneous chromatid breaks and chromosome rearrangements, and/or a hypersensitivity to clastogens (see an introduction to chromosomal aberrations). The genes implicated in these diseases are partly known and seem to have a role in DNA repair and/or in the cell cycle regulation. If lesions into DNA are not correctly repared, mutations and rearrangements will accumulate, until, by chance, one of these mutations results in the activation of an oncogene or in the inactivation of the allele(s) of a tumor suppressor gene. Whence, chromosome instability syndromes are paradigmatic.