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Article

Large genomic rearrangements and germline epimutations in Lynch syndrome

24 Dec 2008

Abstract excerpt

In one-third of families fulfilling the Amsterdam criteria for hereditary nonpolyposis colorectal cancer/Lynch syndrome, and a majority of those not fulfilling these criteria point mutations in DNA mismatch repair (MMR) genes are not found. The role of large genomic rearrangements and germline epimutations in MLH1, MSH2 and MSH6 was evaluated in 2 such cohorts. All 45 index patients were mutation-negative by...

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PMID: 19173287
DOI: 10.1002/ijc.24230

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