abstract: Frequency of Rearrangements in Lynch Syndrome Cases Associated with MSH2: Characterization of a New Deletion Involving both EPCAM and the 5′ Part of MSH2

".......The tumors of the carriers show high-level MSI and MSH2 protein loss. The clinical correlation provided evidence that the type of mutation and the extension of the deletions involving the MSH2 gene could have different implications in cancer predisposition. Thus, the identification of EPCAM-MSH2 rearrangements and their comprehensive characterization should be included in the routine mutation screening protocols for Lynch syndrome."

Norway to bring cancer-gene tests to the clinic : Nature News & Comment

"Norway is set to become the first country to incorporate genome sequencing into its national health-care system. The Scandinavian nation, which has a population of 4.8 million, will use ‘next-generation’ DNA sequencers to trawl for mutations in tumours that might reveal which cancer treatments would be most effective.

In its three-year pilot phase, the Norwegian Cancer Genomics Consortium will sequence the tumour genomes of 1,000 patients in the hope of influencing their treatments. It will also look at another 3,000 previously obtained tumour biopsies to get a better idea of the mutations in different cancers, and how they influence a patient's response to a drug. In a second phase, the project will build the laboratory, clinical and computing infrastructure needed to bring such care to the 25,000 Norwegians who are diagnosed with cancer each year......"

"Similar projects are under way in the United Kingdom and at research hospitals in the United States, France and elsewhere. But Norway’s will be among the first to look for tumour mutations using next-generation DNA sequencing rather than conventional genetic testing."