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LCL Expression Studies

LCL Expression Studies. Familial aggregation of expression profiles in LCL Common mutation signatures in blood cells of cases with retinoblastoma, SLE, autism and bladder cancer Used to triage families for linkage studies in breast cancer

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LCL Expression Studies

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  1. LCL Expression Studies • Familial aggregation of expression profiles in LCL • Common mutation signatures in blood cells of cases with retinoblastoma, SLE, autism and bladder cancer • Used to triage families for linkage studies in breast cancer • Evidence of extra-colonic cancers in families with serrated neoplasia • Methylation widespread in normal colon of HPP • Creates a common expression state • Limited to lymphocytes • Controls for blood collection and transport • Controls for in-vivo conditions at blood-draw • Examined 12 cases with serrated neoplasia and 10 age- and sex- matched non-cancer controls with Illumina 47K • Is there a difference between the two groups? • Are there expression differences common to • All affected individuals in a family plus more than one family • Clue-validation model for confirmation

  2. LCL Expression Arrays Of 84 genes at p<0.005, 67 (80%) were up-regulated (up to 2.4 fold)

  3. Family-based Analysis

  4. Significant Findings (p<0.005) EVC p=0.00003CDC14B p=0.0019

  5. Genes of Interest • EVC Ellis van Creveld gene (EVC) • up-regulated in 4/5 families • associated with dominant and recessive dysplastic dwarfism • function unknown, may inhibit apoptosis • EVC is not normally expressed in lymphocytes • CDC14B and Profilin (PFL) • associated with mitotic exit and the cytoskeleton • multi-nucleated giant cells are observed in family tumours • Other genes • up-regulated SNX7 also up-regulated in bladder cancer • twisted gastrulation homolog1 involved in BMP signaling HSRTSBETA, a naturally occurring thymidylate synthase inhibitor.

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