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An Overview of Genetic Polymorphism and Lung Cancer Risk

Kouya Shiraishi, Takayuki Honda and Takashi Kohno

The incidence and mortality rates of lung cancer in Asia have increased over the past few decades. Owing to the development of molecular-targeted drugs, the prognosis for patients with advanced stage lung cancer has improved. Despite this improvement the 5-year survival rate is very low. Accordingly, it is necessary to identify groups at high risk for lung cancer for prevention. Both environmental and genetic factors are related to the development of lung cancer. For example, cigarette smoking, passive (secondhand) smoking, asbestos exposure, and air pollution are associated with lung cancer. Genetic polymorphisms, including Single Nucleotide Polymorphisms (SNPs), underlie inter-individual differences in cancer susceptibility, and genetic loci for lung cancer risk have been identified by Genome-Wide Association Studies (GWAS) in both European/American and Asian populations. Recent GWAS of lung cancer have identified genetic susceptibility variants on Chromosome 15q25 (CHRNA), 5p15 (TERT), 3q28 (TP63), 6q22 (DCBLD1), 6p21 (BAT3-MSH2 and BTNL2), 10q25 (VTI1A), and 17q.24 (BPTF); however, loci significantly associated with lung cancer risk differ among ethnicities. Here, we review previous GWAS and discuss genetic factors that may be useful for the early detection or prevention of lung cancer.