Cancer Genetics

Y. Ionov, M.A. Peinado, S. Malk-hosyan, D. Shibata, M. Perucho, "Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis," Nature, 363:558-61, 1993. (Cited in 108 publications through December 1994) Comments by Manuel Perucho,California Institute of Biological Research This paper represents the seminal discovery by a research team from the California Institute of Biological Research in La Jolla of an instability in simple repeated sequences o

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Comments by Manuel Perucho,California Institute of Biological Research

This paper represents the seminal discovery by a research team from the California Institute of Biological Research in La Jolla of an instability in simple repeated sequences of DNA. The finding led to a torrent of other articles in the area of cancer mutagenesis and DNA repair.

During the course of their investigations on colorectal cancers, the authors discovered a group of tumors, with distinctive phenotypic and genotypic features, that were consistently characterized by the deletion of sequences of DNA from the genes. "Although the hypothesis of 'cancer as a mutator phenotype' was postulated more than 20 years ago, there was no precedent for our finding that some types of mutation occurred more than 100,000 times in all the cells from some colon cancers," recounts senior author Manuel Perucho, a research program director at the institute.

"Using a special polymerase chain reaction ...

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