Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications (GEX)

ABSTRACT: Introduction: CHEK2 is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about two fold. We pursued to investigate gene copy number aberrations and gene expression profiles that are typical for breast tumors of CHEK2 1100delC mutation carriers. Materials and methods: A total of 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array comparative genomic hybridization (aCGH) and gene expression experiments (GEX). After dimensionality reduction with CGHregions R package, CHEK2 1100delC associated regions in the aCGH data were detected by Wilcoxon rank sum test. Linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC

ORGANISM(S): Homo sapiens

SUBMITTER: Muranen TA 

PROVIDER: S-ECPF-GEOD-24697 | biostudies-other | 2011

REPOSITORIES: biostudies-other