ArticleJournal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer2018
Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.
Article in Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02295085 (Fernald Community Cohort - 18 Year Observational Study with Bio Banked Blood and Urine Samples), which is not on this map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Fernald Community Cohort - 18 Year Observational Study with Bio Banked Blood and Urine Samples
Who cites it
27 citing papers in PubMed, 33 citations in OpenAlex.
- Trial
- High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Article
- XAF1 nonsense mutation rs117407731 enhances lung adenocarcinoma susceptibility via apoptosis suppression.Molecular genetics and genomics : MGG · 2026Article
- Construction of a novel tool for predicting chronic obstructive pulmonary disease mortality in lung cancer patients.Scientific reports · 2025Article
- Zinc Finger Protein-Based Prognostic Signature Predicts Survival in Lung Adenocarcinoma.Cancers · 2025Article
- Construction and clinical significance of prognostic risk markers based on cancer driver genes in lung adenocarcinoma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.Genes, chromosomes & cancer · 2025Article
- Preclinical evidence in the assembly of mammalian SWI/SNF complexes: Epigenetic insights and clinical perspectives in human lung disease therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Article
- Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.Cancer medicine · 2023Article
- Large-scale whole exome sequencing studies identify two genes,CTSL and APOE, associated with lung cancer.PLoS genetics · 2023Article
- The prognostic value of DAAM2 in lower grade glioma, liver cancer, and breast cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Article
- Gene and pathway based burden analyses in familial lymphoid cancer cases: Rare variants in immune pathway genes.PloS one · 2023Article
- Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.Nature communications · 2022Article
- Functional studies of lung cancer GWAS beyond association.Human molecular genetics · 2022Review
- Rare germline deleterious variants increase susceptibility for lung cancer.Human molecular genetics · 2022Article
- Genomic features of Chinese small cell lung cancer.BMC medical genomics · 2022Article
- Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.Frontiers in endocrinology · 2022Review
- Formins in Human Disease.Cells · 2021Review
- Article
Corrections and comments
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Authors and funding
46 authors at 20 institutions in 7 countries.
Funding
Abstract
backgroundGenome-wide association studies are widely used to map genomic regions contributing to lung cancer (LC) susceptibility, but they typically do not identify the precise disease-causing genes/variants. To unveil the inherited genetic variants that cause LC, we performed focused exome-sequencing analyses on genes located in 121 genome-wide association study-identified loci previously implicated in the risk of LC, chronic obstructive pulmonary disease, pulmonary function level, and smoking behavior.
methodsGermline DNA from 260 case patients with LC and 318 controls were sequenced by utilizing VCRome 2.1 exome capture. Filtering was based on enrichment of rare and potential deleterious variants in cases (risk alleles) or controls (protective alleles). Allelic association analyses of single-variant and gene-based burden tests of multiple variants were performed. Promising candidates were tested in two independent validation studies with a total of 1773 case patients and 1123 controls.
resultsWe identified 48 rare variants with deleterious effects in the discovery analysis and validated 12 of the 43 candidates that were covered in the validation platforms. The top validated candidates included one well-established truncating variant, namely, BRCA2, DNA repair associated gene (BRCA2) K3326X (OR = 2.36, 95% confidence interval [CI]: 1.38-3.99), and three newly identified variations, namely, lymphotoxin beta gene (LTB) p.Leu87Phe (OR = 7.52, 95% CI: 1.01-16.56), prolyl 3-hydroxylase 2 gene (P3H2) p.Gln185His (OR = 5.39, 95% CI: 0.75-15.43), and dishevelled associated activator of morphogenesis 2 gene (DAAM2) p.Asp762Gly (OR = 0.25, 95% CI: 0.10-0.79). Burden tests revealed strong associations between zinc finger protein 93 gene (ZNF93), DAAM2, bromodomain containing 9 gene (BRD9), and the gene LTB and LC susceptibility.
conclusionOur results extend the catalogue of regions associated with LC and highlight the importance of germline rare coding variants in LC susceptibility.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.