PNAS paper indicates that copy number modification is a key contributor to neoplasia.

An analysis of the individual genomes from 45 breast and 36 colorectal tumors has revealed a number of genetic alterations that occur in these cancers, including regions of DNA that have been copied and reinserted into the DNA.

The Johns Hopkins researchers say the study indicates that copy number changes rival point mutations as contributors to the abnormal proliferation of cells known as neoplasia.

Using a series of tests to detect genetic deletions and amplifications in the tumors, investigators found that the growths harbored an average of 13 genes that had either been completely deleted or copied more than 12 times.

Combining this data with the results from previous studies, the team then assembled a collection of pathways that appear to be repeatedly disrupted in breast and colorectal cancers. These include pathways that affect cell growth and division, cell adhesion, and signaling between cells.

A conflict of interest in this study is that Victor E. Velculescu, Kenneth W. Kinzler, and Bert Vogelstein  are entitled to a share of royalties received by Johns Hopkins University on sales of products described in this article under deals between the university and Genzyme and separately Beckman Coulter.

The study is published in the Proceedings of the National Academy of Sciences.

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