Browsing by Author "Ittmann, M"

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    Mismatch repair gene expression and genetic instability in testicular germ cell tumor
    (2004) Velasco, A; Riquelme, E; Schultz, M; Wistuba, II; Villarroel, L; Pizarro, J; Berlin, A; Ittmann, M; Koh, MS; Leach, FS
    Human mismatch repair (MMR) genes encode highly conserved interacting proteins that correct replication errors predisposing to hereditary gastrointestinal and genitourinary malignancies. A subset of sporadic genitourinary tumors also exhibits MMR deficiency and can be identified by measuring the frequency of microsatellite instability (MSI) in cancer cell DNA. We investigated expression of the two most commonly mutated MMR genes, MSH2 and MLH1, in sporadic testicular germ cell tumor (GCT) in order to: (1) determine the expression pattern of MSH2 and MLH1 proteins in normal seminiferous tubules and histologically distinct GCT subtypes, (2) correlate MMR gene expression with genetic instability in GCT and (3) develop a panel of molecular markers that can identify genetically distinct subsets of GCT for prognostic assessment.