MA03.11 Trained Dogs Can Identify Malignant Pulmonary Nodules in Exhaled Gas

Abstract

Background: Genome-wide association studies have identified robust susceptibility loci associated with lung cancer. As part of the OncoArray-TRICL consortium, we have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of this study is to integrate the complete GWAS results with a large-scale expression quantitative trait loci (eQTL) mapping study in human lung tissues (n¼1,038) to identify candidate causal genes for lung cancer. Method: Transcriptome-wide association study (TWAS) was used to integrate GWAS and lung eQTL signals and identify genes whose levels of expression in lung tissue are causally related to lung cancer. TWAS was performed on six histological and smoking subgroups, namely overall lung cancer, adenocarcinoma, squamous cell carcinoma, small cell carcinoma, never-smokers, and ever-smokers. Result: As expected, the main TWAS signal for all histological subtypes and ever-smokers was on chromosome 15q25. The genes most strongly associated with lung cancer at this locus were IREB2(P TWAS ¼4.97E-104), and to a lower extent, CHRNA5(P TWAS ¼5.26E-20) and HYKK(P TWAS ¼2.04E-17). TWAS identified causal genes were different from those reported in GWAS including JAMLon 11q23.3 in overall lung cancer (P TWAS ¼1.39E-6) and adenocarcinoma (P TWAS ¼2.09E-8),NOTCH4on 6p21.32 in squamous cell carcinoma (P TWAS ¼1.24E-12), ZNRD1on 6p22.1 in overall lung cancer (P TWAS ¼3.41E-14) and ever-smokers (P TWAS ¼1.29E-9), HIST1H2BDon 6p22.2 for small cell carcinoma (P TWAS ¼1.54E-6), and NEXNon 1p31.1 in never-smokers (P TWAS ¼2.64E-5). In addition, a new small cell carcinoma susceptibility locus was identified on 4q32.2 and associated with the expression levels of TMA16(P TWAS ¼4.2E-6). Conclusion: In conclusion, lung tissue TWAS on lung cancer, histological subtypes and smoking subgroups revealed novel causal genes in GWAS-nominated loci. A new locus for small cell carcinoma (4q32.2-TMA16) was also identified and will require further validation.Background: Published risk estimates for diagnosis of lung cancer based on family history are typically focused on close relatives, rather than a more diverse or complete family history. This study provides relative risks (RR) for lung cancer based on comprehensive family history data obtained from a statewide Cancer Registry linked to a high quality genealogy data resource. Risk estimates presented avoid common recall, recruitment, ascertainment biases, and are based on an individual's (proband's) lung cancer family history constellation (pattern of lung cancer affected relatives). Method: A population-based genealogical resource linked to a statewide electronic SEER cancer registry estimated relative risk (RR) for lung cancer for an individual based upon their lung cancer family history. Family history data available for a proband included degree of relationship (first to thirddegree), paternal or maternal family lung cancer history, number of lung cancer affected relatives and age at diagnosis of affected...

Exhaled Breath Analysis for Cancer Diagnosis and Screening

“…Some research results indicate that the cancer patient could emit some special gas [1], and this provides the possibility to utilize the patient's emission gas for cancer screening, which is noninvasive, simple and sensitive. This diagnostic method has been adopted by using the trained dogs, which have the sensitive sense of smell [2]. And some research results have proven the possibility to use the dogs to realize the early diagnosis for…”