ArticleJournal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer2016
Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.
Article in Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2016. 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 23 papers, 2 of them syntheses that pooled it.
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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
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung).Journal of translational medicine · 2024Pooled it
- Pooled it
- 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
- Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.Genes, chromosomes & cancer · 2025Article
- The MBO2/FAP58 heterodimer stabilizes assembly of inner arm dyneinMolecular biology of the cell · 2024Article
- Rare germline deleterious variants increase susceptibility for lung cancer.Human molecular genetics · 2022Article
- Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.Translational lung cancer research · 2022Article
- Deep-LC: A Novel Deep Learning Method of Identifying Non-Small Cell Lung Cancer-Related Genes.Frontiers in oncology · 2022Article
- Predicting non-small cell lung cancer-related genes by a new network-based machine learning method.Frontiers in oncology · 2022Article
- Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology.Reproductive sciences (Thousand Oaks, Calif.) · 2021Review
- Rare deleterious germline variants and risk of lung cancer.NPJ precision oncology · 2021Article
- Article
- Germline variation networks in the PI3K/AKT pathway corresponding to familial high-incidence lung cancer pedigrees.BMC cancer · 2020Article
- Article
- Identification of genetic variants associated with tacrolimus metabolism in kidney transplant recipients by extreme phenotype sampling and next generation sequencing.The pharmacogenomics journal · 2019Observational
- Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2018Article
- A Decade of GWAS Results in Lung Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Review
- Screen-detected multiple primary lung cancers in the ITALUNG trial.Journal of thoracic disease · 2018Article
- Characteristics of Familial Lung Cancer in Yunnan-Guizhou Plateau of China.Frontiers in oncology · 2018Article
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
introductionThe association between smoking-induced chronic obstructive pulmonary disease (COPD) and lung cancer (LC) is well documented. Recent genome-wide association studies (GWAS) have identified 28 susceptibility loci for LC, 10 for COPD, 32 for smoking behavior, and 63 for pulmonary function, totaling 107 nonoverlapping loci. Given that common variants have been found to be associated with LC in genome-wide association studies, exome sequencing of these high-priority regions has great potential to identify novel rare causal variants.
methodsTo search for disease-causing rare germline mutations, we used a variation of the extreme phenotype approach to select 48 patients with sporadic LC who reported histories of heavy smoking-37 of whom also exhibited carefully documented severe COPD (in whom smoking is considered the overwhelming determinant)-and 54 unique familial LC cases from families with at least three first-degree relatives with LC (who are likely enriched for genomic effects).
resultsBy focusing on exome profiles of the 107 target loci, we identified two key rare mutations. A heterozygous p.Arg696Cys variant in the coiled-coil domain containing 147 (CCDC147) gene at 10q25.1 was identified in one sporadic and two familial cases. The minor allele frequency (MAF) of this variant in the 1000 Genomes database is 0.0026. The p.Val26Met variant in the dopamine β-hydroxylase (DBH) gene at 9q34.2 was identified in two sporadic cases; the minor allele frequency of this mutation is 0.0034 according to the 1000 Genomes database. We also observed three suggestive rare mutations on 15q25.1: iron-responsive element binding protein neuronal 2 (IREB2); cholinergic receptor, nicotinic, alpha 5 (neuronal) (CHRNA5); and cholinergic receptor, nicotinic, beta 4 (CHRNB4).
conclusionsOur results demonstrated highly disruptive risk-conferring CCDC147 and DBH mutations.
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