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Síndrome de Lynch: Caracterización genético clínica. Caso clínico

DOI: 10.4067/S0034-98872008000600011

Keywords: colorectal neoplasms, hereditary nonpolyposis, mlh1 protein, human, msh2 protein, human.

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hereditary non-polyposis colorectal cancer (hnpcc) or lynch syndrome is an autosomic dominant syndrome involving 596-1096 of colorectal cancer patients. mutations in mlh1 and msh2 genes account for most cases. these two genes particípate in the dna mismatch repair pathway. therefore mutation carriers show microsatellite instability (msi) in tumors. this syndrome is characterized by the early development of colorectal cancer (before 50 years) and an increased incidence of cancer in other organs. we report four siblings from a family diagnosed with hnpcc. all of them were subjected to colonic surgery for colorectal cancer moreover, one patient developed an ampulloma after her colon surgery. the molecular-genetic analysis revealed three brothers with microsatellite instability in the tumor tissue, the absence of the mlh1 protein, and the presence of a germ une mutation localized in introm 15 ofthe mlh1 gene


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