The EGFR R521K polymorphism influences the risk to develop colorectal cancer.

摘要: Epidermal growth factor receptor (EGFR) family members (EGFR, HER2, HER3 and HER4) have been extensively investigated for its possible involvement in cancer development progression. In colorectal (CRC) EGFR has found frequently over-expressed, thus therapy targeting developed. Interestingly, it observed that genetic variants these receptors may alter the therapeutic efficacy of inhibitors. Polymorphic could influence different biologic activities, such as ligands affinity, dimerization efficiency, kinase activity, expression levels, with a consequent impact signalling pathways cell behaviour. This study aimed to verify whether single nucleotide polymorphisms (SNPs) represent susceptibility factors able risk develop CRC. Peripheral blood 70 Italian colon patients 72 healthy controls was used source genomic DNA investigate EGFR, HER2 common non-synonymous SNPs. Genetic association tests were performed relationship Evidence genotype R521K polymorphism under dominant mode inheritance (Mid-P=0.031). Genotypes variant allele SNP confer reduction