Dataset Information

HERPROS: Genetic Susceptibility and Prostate Cancer Risk in the Spanish Population

ABSTRACT: This project includes germline variant data from Spanish patients with prostate cancer and internal control individuals analyzed using a multigene hereditary cancer panel. The aim is to characterize pathogenic and likely pathogenic variants in prostate cancer susceptibility genes, compare their frequencies across study groups, and investigate associations with clinical features and family history in the affected cohort.

INSTRUMENT(S): Illumina

ORGANISM(S): Homo Sapiens

SUBMITTER: Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain

PROVIDER: PRJEB109989 | EVA | 2026-03-18

REPOSITORIES: EVA

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Dataset's files

Source:

			Action	DRS
	HERPROS_reconstructed_INSDC.vcf.csi	Other
	HERPROS_reconstructed_INSDC.vcf.gz	Vcf
	HERPROS_reconstructed_INSDC.vcf.gz.csi	Vcf

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Project description:Expression profiling is a well established tool for the genome-wide analysis of the transcriptional activity of human neoplasia. However, the high sensitivity of this approach combined with the well-known cellular and molecular heterogeneity of cancer often result in extremely complex and extended expression signatures of difficult functional interpretation. The majority of sporadic colorectal cancer cases are triggered by mutations in the APC tumor suppressor gene leading to constitutive activation of the Wnt/b-catenin signaling pathway and adenoma formation. Notwithstanding this common genetic basis, colorectal cancers are very heterogeneous in their degree of differentiation, growth rate and malignant potential. Here, we applied cross-species comparison of expression profiles of intestinal polyps derived from hereditary colorectal cancer patients carrying APC germline mutations, and from a mouse model carrying a targeted inactivating mutation in the mouse homologue Apc. This comparative approach resulted in the establishment of a conserved signature encompassing 166 genes differentially expressed between adenomas and normal intestinal mucosa in both species. Functional analysis of the conserved genes revealed a general increase in cell proliferation and the activation of the Wnt/b-catenin signal transduction pathway, as expected from the selection of APC/Apc-mutant intestinal adenomas. Moreover, the conserved signature is able to resolve expression profiles from hereditary polyposis patients carrying APC germline mutations from those with bi-allelic incativation of the MYH gene. Keywords: normal versus tumor comparison; compare expression profiles from microdissected samples with distinct germline mutations (FAP vs. MAP). Here, we report the expression profiles from normal and intestinal adenomatous tissue from FAP (familial adenomatous polyposis) and MAP (MUTY-associated polyposis) patients with established APC and MUTY germline mutations. Total RNA samples were obtianed by laser capture microdissection.

Dataset Information

HERPROS: Genetic Susceptibility and Prostate Cancer Risk in the Spanish Population

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