Expression data from whole blood

While identification of genes mutated in high penetrance tumor predisposition syndromes has been a success story, much less progress has been made in characterizing the genetic basis of low penetrance tumor susceptibility. Combining recently introduced chip-based technologies with traditional genealogy work we have identified inactivating germline mutations in patients with pituitary adenoma predisposition (PAP). The experiment consisted of a collection of blood samples from identified families where PAP was observed and analysis of gene expression data used together with SNP genoptyping and linkage analysis. The findings were further studied using direct screening and other supporting methods. Keywords: affected and obligatory carriers vs controls To identify the PAP locus whole genome SNP genotyping and linkage analysis was combined with gene expression profiling from 16 individuals (9 affected/obligatory carriers: A2, A6, A8, A14, A16, A18, A20, A21, A22, and 7 controls). Statistical analysis was performed on probe sets mapped to the linked region.