Human DNA repair diseases: From genome instability to cancer

Genome Instability, Evolution and Human Diseases

DNA mismatch repair, microsatellite instability and cancer.

Mismatch (MMR) repair system plays a significant role in restoration of stability in the genome. Mutations in mismatch repair genes hamper their activity thus bring about a defect in mismatch repair (MMR) mechanism thereby conferring instability in the microsatellite sequences of both the coding and non-coding regions of the genome. Mutated mismatch repair genes result in the expansion or contr...

DNA Repair, Human Diseases and Aging

One of the most fundamental functions of a cell is the transmission of genetic information to the next generation, with high fidelity. On the face of it, this seems a challenging task given that cells in the human body are constantly exposed to thousands of DNA lesions every day both from endogenous and exogenous sources. Yet, for long periods of time, the DNA sequences are one of the most inva...

Checkpoint Kinase-Dependent Regulation of DNA Repair and Genome Instability in Breast Cancer

Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability

Microsatellite instability (MSI) is associated with defective DNA mismatch repair in various human malignancies. Using a unique fluorescent technique, we have observed two distinct modes of dinucleotide microsatellite alterations in human colorectal cancer. Type A alterations are defined as length changes of < or =6 bp. Type B changes are more drastic and involve modifications of > or =8 bp. We...