Family aggregation of pulmonary ground glass nodules: Identification of multiple candidate risk loci.

Journal of Clinical Oncology(2020)

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摘要
e13512Background: Lung cancer with family history have been emerging gradually of late years in East Asian, especially those presenting as pulmonary ground-glass nodules (GGNs). The predisposition of GGNs with lung cancer family history remains baffling. Methods: This prospective study was registered at clinicaltrials.gov (number NCT04220268) and enrolled patients with pulmonary pre-invasive or invasive adenocarcinoma, especially presenting as GGNs. We collected blood and tumor samples from 29 GGNs patients with family history to investigated germline and somatic mutations by whole exome sequencing (WES). As the first part of our study, we focused on 107 nonoverlapping susceptibility loci for lung carcinogenesis identified by recent genome-wide association studies (GWAS) to identify novel rare causal variants. Potential causal variants were further verified in other patients from the families when …
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