Abstract
Abstract Prostate cancer currently has the fifth highest incidence rate in Korean males, and is the most common cancer in western males. Prostate cancer is the second most common malignancy in men worldwide, and is responsible for approximately 250,000 cancer-related deaths annually. The search for accurate biomarkers and characterization of prostate cancer is critical for evolution of accurate management of prostate cancer. Previous studies have identified that several genomic alterations in prostate cancer including TMPRSS2-ERG fusion, PTEN deletion and SPOP single nucleotide variants (SNVs), the majority of which are from western population. In order to investigate the somatic mutations of Korean prostate cancers, we performed whole exome sequencing on 51 prostate cancer patient’s tumor tissues, and matched normal tissue. For the accurate detections of structural variations, we additionally performed whole genome sequencing on 9 matched pairs (tumor, normal). A total of 738 somatic non-silent variants affecting 692 distinct genes were identified. In addition to already known genes such as SPOP, FOXA1, TP53 and PTEN, we also found previously uncharacterized genes such as GRIN2A, LRP1, FNDC1 and LRP1B. Of the 40 mutated genes across multiple cases, missense SNVs of SPOP (10/60 cases, 16.7%) were the most frequent, followed by missense and splice-site SNVs of GRIN2A (5/60 cases, 8.3%). Mutations in low-density lipoprotein-related protein encoded by LRP1 and LRP1B affected considerable portion of all cases (7/60, 11.7%), describe the probable relation between lipid metabolism and prostate cancer. We found TMPRSS2-ERG fusion in 4 of 9 whole genome samples. Moreover, 5 samples had 8p whole arm deletion, which is found frequent in western prostate cancers. As a result, we describe the genomic patterns of genetic variations and structural variations involved in prostate cancer of Korean population. Citation Format: Se Song Jang, Min Jung Kim, Dong Wan Hong, Jae Young Joung, Sung Han Kim, Kang Hyun Lee, Weon Seo Park, Jong-Il Kim. Genomic analysis of prostate cancer in Korean men [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 3392. doi:10.1158/1538-7445.AM2017-3392
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