Gene rearrangements, such as anaplastic lymphoma kinase (ALK), c-ros oncogene 1 receptor tyrosine kinase (ROS1), rearrangedduring transfection (RET) and neurotrophic receptor tyrosine kinase 1 (NTRK1), identified in cancer have been indicated to be robusttherapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery ofnovel gene fusions is also valuable for LARC research. We used mass spectrometry-based assays and RNA sequencing to detect bothknown ALK, ROS1, RET and NTRK1 rearrangements and novel gene fusions in LARC patients. FusionMap was also used to find genefusions. None of the ALK, ROS1, RET or NTRK1 gene fusions were detected by mass spectrometry-based assays or RNA sequencing. Threefusion candidates, integrin subunit beta 7 (ITGB7)-ROS1, lamin A/C (LMNA)-NTRK1 and Golgi-associated PDZ and coiled-coil motifcontaining (GOPC)-keratin 8 (KRT8), showed relatively high junction-spanning reads by the FusionMap algorithm, but did not passvalidation. These results suggest that no ALK, ROS1 or RET rearrangements were found in LARC.

In this study, we examined and validated how common variants contribute to susceptibility to chronic obstructive pulmonarydisease (COPD) in the Han Chinese population. Here, we genotyped 18 nucleotide polymorphisms and evaluated their associationwith COPD using chi-square test and genetic model analysis (246 COPD patients and 350 controls), and found threeSNPs that might cause a predisposition to COPD. Both rs3025030 and rs3025033 are located on chromosome 6 in VEGF-A.We found one risk allele ‘C’ from rs3025030 and another ‘G’ from rs3025033 using the log-additive model (OR 1.40; 95% CI1.05–5.96; P = 0.022), (OR 1.38; 95% CI 1.03–1.84; P = 0.03). We also found another risk allele ‘A’ of rs9296092 in generegion ZBTB9-BAK1 by the allele model (OR 2.63; 95% CI 1.27–5.45; P = 0.0078), (adjusted OR 3.53; 95% CI 1.12–11.11; P = 0.031).We found a risk haplotype ‘CG’ associated with the risk of COPD (OR 1.39; 95% CI 1.04–1.86; P = 0.028). Ourresults when compared with previous studies showed significant association between VEGF-A polymorphism and COPD. Wealso identified rs9296092 as a risk factor for COPD.