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Fig. 3 | Chinese Journal of Cancer

Fig. 3

From: Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Fig. 3

Network of genes and molecules inferred from Ingenuity® Pathway Analysis (IPA). The 13 genes exhibiting truncating variants were combined with the erb-b2 receptor tyrosine kinase 2 (ERBB2) gene harboring the rs1058808 single nucleotide polymorphism (SNP), which was predicted to be deleterious by the sorting intolerant from tolerant (SIFT) and polymorphism phenotyping version 2 (PolyPhen-2) tools, the microRNA-650 (MIR650) gene (a colorectal cancer-related gene), and the androgen receptor (AR) gene harboring the pathogenic rs9332969 SNP to test the putative enrichment of the canonical pathways, disease and biological functions, and molecular networks. When the short list of altered genes was examined using the IPA software, a single pathway (top functions: gene expression, cellular growth and proliferation, tissue development) with a high score (46, P < 0.001) was identified. Genes highlighted in blue were identified to be altered in III.2 (proband) and III.3 (cousin). Genes highlighted in red were found to be altered only in subject III.2. The dihydrotestosterone molecule is highlighted in green

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