Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors

ABSTRACT: Uninvolved tissue taken at the time of primary surgical resection of an adenocarcinoma. Uninvolved status determined by surgical margin and gross appearance, not pathology 35 biologically distinct samples, no replicates, no controls

ORGANISM(S): Homo sapiens

SUBMITTER: David Quigley

PROVIDER: E-GEOD-48067 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Publications

The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.

Quigley David A DA Fiorito Elisa E Nord Silje S Van Loo Peter P Alnæs Grethe Grenaker GG Fleischer Thomas T Tost Jorg J Moen Vollan Hans Kristian HK Tramm Trine T Overgaard Jens J Bukholm Ida R IR Hurtado Antoni A Balmain Allan A Børresen-Dale Anne-Lise AL Kristensen Vessela V

Molecular oncology 20131203 2

Genome-wide association studies have identified numerous loci linked to breast cancer susceptibility, but the mechanism by which variations at these loci influence susceptibility is usually unknown. Some variants are only associated with particular clinical subtypes of breast cancer. Understanding how and why these variants influence subtype-specific cancer risk contributes to our understanding of cancer etiology. We conducted a genome-wide expression Quantitative Trait Locus (eQTL) study in a d ...[more]

PMID: 24388359

Similar Datasets

Project description:Somatic mosaicism for DNA copy number alterations (SMC-CNA) is defined as gain or loss of chromosomal segments in mitotic cells within a single organism. As cells harboring SMC-CNA have the potential to undergo clonal expansion, SMC-CNA may be present in a substantial portion of cells in differentiated human tissues and may contribute to the predisposition of these cells to genetic disease including cancer. We characterized gross genomic alterations (>500 kbp) in uninvolved glandular tissue from 59 breast cancer patients and matched samples of primary tumors and lymph node metastases. Array based comparative genomic hybridization experiments showed 10% (6/59) of patients harbored 1 - 359 large SMC-CNA (mean: 1328 kbp; median: 961 kbp) in uninvolved glandular tissue. SMC-CNA were partially recurrent in tumors, albeit with considerable contribution of stochastic SMC-can, indicating genomic destabilization. Therefore, we hypothesized that the observed genomic destabilization is predetermined by mutations in genes related to maintenance of genomic integrity. Targeted resequencing of 301 known predisposition and somatic driver loci revealed mutations in the following genes: BRCA1 (p.Gln1756Profs*74, p.Arg504Cys), BRCA2 (p.Asn3124Ile), NCOR1 (p.Pro1570Glnfs*45), PALB2 (p.Ser500Pro) and TP53 (p.Arg306*). We demonstrated that gross SMC-CNA may be present in a substantial portion of glandular tissue cells, which are distant from that of the tumor cells, and may co-occur with point mutations in crucial cancer predisposing or somatic driver genes. Taken together, this highlights temporal and spatial neoplastic potential of uninvolved glandular tissue from breast cancer patients. Characterization of gross genomic alterations (>500 kbp) in uninvolved glandular tissue from 59 breast cancer patients and in the matched samples of primary tumors and lymph node metastases. Corresponding peripheral blood lekocyte DNA, a pool of female DNA (Promega), or uninvolved glandular tissue DNA was used as reference. No biological replicates are included.

Dataset Information

The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors

Publications

The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets