Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

Article Abstract:

Mutation in a DNA replication factor may explain some deletions and repeating features in the neoplastic regions of sequences in tumour cells. Somatic deletions in poly(dA-dT) sequences and repeats occur in 12% of colorectal carcinoma cells, pointing to a defective replication factor. This reduces replicating fidelity and increases mutation rates in tumor tissues. Similar mutations may be found in other tumor regions in the same patient, leading to a possibility that these are genotypic and phenotypic features and may be diagnosed as an inherited predisposition to carcinoma.

Colorectal cancer, Genetic aspects, Chromosome abnormalities

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Engagement with transcription

Article Abstract:

Two recent studies on xeroderma pigmentosum (XP-G) present important contributions towards the understanding of repair syndromes. The first study demonstrates the role of the yeast excision repair gene RAD2 in extreme cases of XP-G. The second is an enzymological study showing the similarity between RAD2, XP-G correcting protein and ERCC5 proteins. The relationship between transcription and repair has now been established and could lead to a deeper understanding of human genetics.

Xeroderma pigmentosum

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Frameshift mutator mutations

Article Abstract:

The frameshift mutations of the microsatellite mutator phenotype (MMP) human tumor cells usually occur in the coding regions hMSH3 and hMSH6. The mutations in these areas are associated with MMP tumors and cancer. The cells possess inactivating mutations in DNA-mismatch repair genes. A progressive mutator mutation model explains the relationship between DNA mismatch repair and MMP cancer, and the temporal associations and hierarchies among mutator genes.

Reports, Causes of, Physiological aspects, Gene mutations, Gene mutation, Cancer, Tumors

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