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Molecular genetic investigation of polymorfisms and STR loci in patients with nonsmall cell lung cancer

Publication at First Faculty of Medicine |


Short tandem repeats (STRs) located in/at TP53 (pentaTP53, diTP53), APC (D5S346, D5S318, D5S299, D5S82), FHIT (D3S1300) and VHL genes (D3S1560) were analyzed in plasma cell-free DNA (cfDNA), and, in parallel in genomic DNA, four single-nucleotide polymorphisms (SNPs) mapping to the region of nicotinic acetylcholine receptor subunit genes on 15q24-q25. Study was conducted to identify risk genetic factors in patients with nonsmall cell lung cancer (NSCLC), compared to individuals with non-tumor pulmonary diseases, and anonymized blood samples from routine laboratory.

We have studied loss of heterozygosity (LOH) in total cfDNA, genomic DNA of the same patient served us as a control. Further, we have introduced analysis of SNPs in genes: LOC123688 (rs931794, rs8034191), CHRNA3 (rs1051730) and CHRNA5 (rs16969968), recently shown to be associated with risk for lung cancer.