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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 noncancer 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 LCL Expression Arrays Of 84 genes at p<0.005, 67 (80%) were up-regulated (up to 2.4 fold) Family-based Analysis Significant Findings (p<0.005) Family A B C D E Individuals N=3 N=2 N=3 N=2 N=2 Phenotype Mother and 2 sons with HPS 2 sisters with HPS Father with HPS and 2 sons with sparse polyps Brother with HPS, sister with advanced serrated polyps Mother with CRC and son with HPS CDC14B EVC EVC p=0.00003 CDC14B p=0.0019 Genes of Interest EVC Ellis van Creveld gene (EVC) CDC14B and Profilin (PFL) 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 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.