Article
Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.
Cancer prevention research (Philadelphia, Pa.) - 1 Oct 2011
Pérez-Cabornero Lucia, Infante Sanz Mar, Velasco Sampedro Eladio, Lastra Aras Enrique, Acedo Becares Alberto, Miner Pino Cristina, Durán Domínguez Mercedes
Abstract excerpt
Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and PMS2 mismatch repair genes and leads to a high risk of colorectal and endometrial cancer. It was recently shown that constitutional 3' end deletions of EPCAM could cause Lynch syndrome in tissues with MSH2 deficiency. We aim to establish the spectrum of mutations in MSH2-associated Lynch syndrome cases and their clinical implications....
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