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C. Jin
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P1.06 - Poster Session/ Screening and Early Detection (ID 218)
- Event: WCLC 2015
- Type: Poster
- Track: Screening and Early Detection
- Presentations: 1
- Moderators:
- Coordinates: 9/07/2015, 09:30 - 17:00, Exhibit Hall (Hall B+C)
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P1.06-016 - A Novel Functional Polymorphism in CIR1 Gene Is Associated with the Risk of Lung Cancer (ID 1131)
09:30 - 09:30 | Author(s): C. Jin
- Abstract
Background:
We evaluated the associations between potentially functional variants in cancer-related genes and the risk of lung cancer to identify genetic factors responsible for lung cancer susceptibility in a Korean population.
Methods:
A total of 1,969 potentially functional single nucleotide polymorphisms (SNPs) of 1,151 genes involved in carcinogenesis were evaluated using the Affymetrix custom-made GeneChip in 610 NSCLC patients and 610 healthy controls. A replication study was performed on an independent set of 490 cases and 486 controls.
Results:
Eighty two SNPs with P < 0.05 for genotype distribution in the discovery set were tested in the replication study. Among the 82 SNPs, three SNPs (corepressor interacting with RBPJ 1 [CIR1] SNP1T>C, solute carrier family 38, member 4 [SLC38A4] SNP2C>T, ribonucleotide reductase M1 [RRM1] SNP3T>C) constantly showed significant associations with lung cancer (adjusted odds ratio [aOR] = 0.68, 95% CI = 0.59-0.84, P < 0.0001; aOR = 0.74, 95% CI = 0.63-0.88, P = 0.001; aOR = 0.72, 95% CI = 0.56-0.93, P = 0.01, respectively, under dominant model). Promoter assay demonstrated a decreased reporter gene expression for CIR1 SNP1 C allele was observed compared with T allele (P = 0.02).
Conclusion:
Our results suggest that the three SNPs, particularly CIR1 SNP1T>C, may contribute to lung cancer susceptibility in Koreans.
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P3.04 - Poster Session/ Biology, Pathology, and Molecular Testing (ID 235)
- Event: WCLC 2015
- Type: Poster
- Track: Biology, Pathology, and Molecular Testing
- Presentations: 1
- Moderators:
- Coordinates: 9/09/2015, 09:30 - 17:00, Exhibit Hall (Hall B+C)
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P3.04-068 - A Genetic Variation in a microRNA Target Site of ETS2 Gene Is Associated with Clinical Outcome of Chemotherapy in Non-Small Cell Lung Cancer (ID 2904)
09:30 - 09:30 | Author(s): C. Jin
- Abstract
Background:
Genetic polymorphisms in miRNAs or their target sites may affect miRNA-mRNA interactions, leading to altered expression of target genes. Recently, crosslinking, ligation, and sequencing of hybrids (CLASH) provided direct observation of transcriptome-wide miRNA-target pairs. The present study was performed to investigate the association of single nucleotide polymorphisms (SNPs) located in the miRNA target sites, which were experimentally verified by CLASH, with the clinical outcome of chemotherapy in advanced non–small cell lung cancer (NSCLC).
Methods:
Ninety eight SNPs in miRNA target sites of cancer related genes were selected from 18,500 miRNA:target interactions in CLASH data, and investigated in 384 advanced NSCLC patients who received first-line paclitaxel-cisplatin chemotherapy, using a sequenom mass spectrometry-based genotype assay.
Results:
Of the 98 SNPs analyzed, 17 SNPs were significantly associated with the clinical outcome after chemotherapy. Among these, ANAPC1 rs3814026C>T, ETS2 rs461155A>G, and SORBS1 rs7081076C>A were found to be associated with both chemotherapy response and survival. Notably, the relative expression level of ETS2 was significantly associated with rs461155A>G genotypes in both tumor and paired normal lung tissues (Ptrend = 4 x 10[-7], and 0.0003, respectively).
Conclusion:
These findings suggest that the three SNPs, especially ETS2 rs461155A>G, could be used as biomarkers predicting the response and survival of NSCLC patients treated with first-line paclitaxel-cisplatin chemotherapy.
