【佳學基因檢測】整合種系和體細胞遺傳學以識別與肺癌相關的基因

品牌基因檢測中心引言

研究體會到《Genet Epidemiol》在?2020 Apr;44(3):233-247發(fā)表了一篇題目為《整合種系和體細胞遺傳學以識別與肺癌相關的基因》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Jack Pattee,?Xiaowei Zhan,?Guanghua Xiao,?Wei Pan?等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內容關鍵詞：

PrediXcan, SSU測試, TWAS, aSPU 測試, eQTL,總和測試。

腫瘤靶向治療基因檢測臨床應用結果

全基因組關聯(lián)研究 (GWAS) 已成功鑒定出許多與復雜性狀相關的遺傳變異。但是，GWAS 遇到電源問題，導致無法檢測到某些相關變體。此外，GWAS 通常無法解析驅動關聯(lián)的生物學機制?，F(xiàn)有的基于基因的關聯(lián)測試框架，全轉錄組關聯(lián)研究 (TWAS)，利用表達數(shù)量性狀基因座數(shù)據(jù)來增加關聯(lián)測試的能力，并闡明遺傳變異調節(jié)復雜性狀的生物學機制。我們擴展了 TWAS 方法以整合來自腫瘤的體細胞信息。通過整合種系和體細胞數(shù)據(jù)，我們能夠利用來自腫瘤細微體細胞景觀的信息。因此，我們可以增強 TWAS 類型測試的能力，以檢測與癌癥表型相關的種系遺傳變異。我們使用來自癌癥基因組圖譜的肺腺癌的體細胞和生殖細胞數(shù)據(jù)以及薈萃分析的肺癌 GWAS 來識別與肺癌相關的新基因。

腫瘤發(fā)生與反復轉移國際數(shù)據(jù)庫描述：

Genome-wide association studies (GWAS) have successfully identified many genetic variants associated with complex traits. However, GWAS experience power issues, resulting in the failure to detect certain associated variants. Additionally, GWAS are often unable to parse the biological mechanisms of driving associations. An existing gene-based association test framework, Transcriptome-Wide Association Studies (TWAS), leverages expression quantitative trait loci data to increase the power of association tests and illuminate the biological mechanisms by which genetic variants modulate complex traits. We extend the TWAS methodology to incorporate somatic information from tumors. By integrating germline and somatic data we are able to leverage information from the nuanced somatic landscape of tumors. Thus we can augment the power of TWAS-type tests to detect germline genetic variants associated with cancer phenotypes. We use somatic and germline data on lung adenocarcinomas from The Cancer Genome Atlas in conjunction with a meta-analyzed lung cancer GWAS to identify novel genes associated with lung cancer.