The Breast · 2012 · 76 citations · 23 references
Life SciencesGeneticsOncologyImmunogeneticsInnate ImmunityMedical GeneticsGermline Cancer SusceptibilityInnate Immune Gene PolymorphismsReceptor PolymorphismsSignal Transduction In CancerToll-like Receptor GeneticsToll-like ReceptorsAllele ReplacementImmune Response Gene Polymorphism AnalysisToll-like Receptor 2 GeneticsToll-like Receptor Functional PolymorphismsToll-like Receptor Gene PolymorphismsToll-like Receptor Promoter VariantsToll-like Receptor SignalingToll-like Receptors In Cancer
Toll-like receptor (TLR) activation may be an important event in tumor cell immune evasion. TLR2 and TLR4 gene polymorphisms have been related to increased susceptibility to cancer development in various organs. 261 patients and 480 health individuals were investigated for genotype and allelic frequencies of a 22-bp nucleotide deletion (-196 to -174del) in the promoter of TLR2 gene as well as two polymorphisms causing amino acid substitutions (Asp299Gly and Thr399Ile) in TLR4 gene. As far as (-196 to -174del) in TLR2 gene is concerned ins/del and del/del genotypes and del allele were significantly more frequent in breast cancer patients compared to healthy controls. Considering Asp299Gly replacement of TLR4 gene, Gly carriers (Asp/Gly & Gly/Gly genotype) and Gly allele were overrepresented among the breast cancer cases. The -174 to -196del of TLR2 gene and Asp299Gly of TLR4 gene polymorphisms may confer an increased susceptibility to breast cancer development.
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TLR4 mutations are associated with endotoxin hyporesponsiveness in humans
Nancy C. Arbour, Eva Lorenz, Brian C. Schutte et al. · Nature Genetics · 2000 · 2K citations
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