The Impact of Polymorphic Variations in the 5p15, 6p12, 6p21 and 15q25 Loci on the Risk and Prognosis of Portuguese Patients with Non-Small Cell Lung Cancer

Abstract

IntroductionPolymorphic variants in the 5p15, 6p12, 6p21, and 15q25 loci were demonstrated to potentially contribute to lung cancer carcinogenesis. Therefore, this study was performed to assess the role of those variants in non-small cell lung cancer (NSCLC) risk and prognosis in a Portuguese population.Materials and MethodsBlood from patients with NSCLC was prospectively collected. To perform an association study, DNA from these patients and healthy controls were genotyped for a panel of 19 SNPs using a Sequenom® MassARRAY platform. Kaplan-Meier curves were used to assess the overall survival (OS) and progression-free survival (PFS).ResultsOne hundred and forty-four patients with NSCLC were successfully consecutively genotyped for the 19 SNPs. One SNP was associated with NSCLC risk: rs9295740 G/A. Two SNPs were associated with non-squamous histology: rs3024994 (VEGF intron 2) T/C and rs401681 C/T. Three SNPs were associated with response rate: rs3025035 (VEGF intron 7) C/T, rs833061 (VEGF –460) C/T and rs9295740 G/A. One SNP demonstrated an influence on PFS: rs401681 C/T at 5p15, p = 0.021. Four SNPs demonstrated an influence on OS: rs2010963 (VEGF +405 G/C), p = 0.042; rs3025010 (VEGF intron 5 C/T), p = 0.047; rs401681 C/T at 5p15, p = 0.046; and rs31489 C/A at 5p15, p = 0.029.ConclusionsOur study suggests that SNPs in the 6p12, 6p21, and 5p15 loci may serve as risk, predictive and prognostic NSCLC biomarkers. In the future, SNPs identified in the genomes of patients may improve NSCLC screening strategies and therapeutic management as well.

Genetic variants related to angiogenesis and apoptosis in patients with glioma

“…The association between EGFR-rs1468727 polymorphism and gliomas was not confirmed, which was also found in another case study 13 , but is in disagreement with other authors 15,16 . In this case, there was a prevalence of the heterozygous genotype (T/C) in both groups, which was also reported in a Chinese population 15 .…”

Association of multiple genetic variants with chronic obstructive pulmonary disease susceptibility in Hainan region

“…In total, 16 SNPs from six independent susceptibility loci (at 4q28.1, 6p21.32, 6q16.1, 10q22.1, 10q22.3 and 6p21.1) were selected have previously been reported to be most associated with COPD or smoking behaviors , with minor allele frequencies >5% in the HapMap Chinese Han Beijing (CHB) population. DNA was extracted from whole‐blood samples using the GoldMag‐Mini Whole Blood Genomic DNA Purification Kit (GoldMag Co. Ltd., Xi'an City, China) according to the manufacturer's recommendations.…”

PIK3CA rs7640662 (C/G) single nucleotide polymorphism lacks association with breast cancer cases in Persians

“…By reviewing the previous studies, most of abnormalities in PIK3CA signaling function were associated with the mutations mostly occurred in exons and active sites of the enzyme [10,12,31,35]. In the present study, although rs7640662 SNP which is located in intron lack association with breast cancer, PIK3CA intron mutations may play a role in post-transcriptional regulation of exon activity of this crucial enzyme [36]. In addition, this mutation (intron variant) may have important implications for the predicting and diagnostic purposes among families with some cases of breast cancer in their pedigree which needs further research [37].…”