TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer
作者： Rainer Fagerholm , Sofia Khan , Marjanka K Schmidt , Montserrat GarcClosas , Päivi Heikkilä
DOI: 10.18632/ONCOTARGET.15110
关键词: Gene mutation 、 Single-nucleotide polymorphism 、 Survival analysis 、 Anthracycline 、 Predictive marker 、 Bioinformatics 、 Oncology 、 Genotype 、 Medicine 、 Internal medicine 、 Breast cancer 、 Estrogen receptor
摘要: TP53 overexpression is indicative of somatic mutations and associates with aggressive tumors poor prognosis in breast cancer. We utilized a two-stage SNP association study to detect variants associated cancer survival TP53-dependent manner. Initially, genome-wide (n = 575 cases) was conducted discover candidate SNPs for genotyping validation the Breast Cancer Association Consortium (BCAC). The were then tested interaction tumor status 4,610) anthracycline treatment 17,828). For interacting treatment, siRNA knockdown experiments carried out validate genes.In test between genotype status, we identified one locus, represented by rs10916264 (p(interaction) 3.44 × 10-5; FDR-adjusted p 0.0011) estrogen receptor (ER) positive cases. AA worse among cases ER-positive, TP53-positive (hazard ratio [HR] 2.36, 95% confidence interval [C.I] 1.45 - 3.82). This cis-eQTL locus FBXO28 TP53BP2; expression levels these genes patient specifically TP53-mutated tumors. Additionally, rs798755 9.57 10-5, 0.0130). RNAi-based depletion predicted regulatory target gene, FAM53A, indicated that this gene can modulate doxorubicin sensitivity cell lines.If confirmed independent data sets, results may be clinical relevance development prognostic predictive marker panels
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