ArticleAmerican journal of human genetics2015
A recurrent mutation in PARK2 is associated with familial lung cancer.
Article in American journal of human genetics, 2015. 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 40 papers, 3 of them syntheses that pooled it.
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
40 citing papers in PubMed, 3 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.Genome medicine · 2022Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Risk of lung cancer in Parkinson's disease.Oncotarget · 2016Pooled it
- Review
- 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
- Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Review
- Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.Journal of translational medicine · 2025Article
- Deficiency in the mitophagy mediator Parkin accelerates murine skin allograft rejection.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2024Article
- Parkin inhibits proliferation and migration of bladder cancer via ubiquitinating Catalase.Communications biology · 2024Article
- Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.Cancer medicine · 2023Article
- Sporadic pituitary adenoma with somatic double-hit loss of MEN1.Pituitary · 2023Article
- A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall-cell lung cancer.International journal of cancer · 2023Article
- The RING finger protein family in health and disease.Signal transduction and targeted therapy · 2022Review
- 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
- Deep-LC: A Novel Deep Learning Method of Identifying Non-Small Cell Lung Cancer-Related Genes.Frontiers in oncology · 2022Article
- Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.Human molecular genetics · 2021Article
- Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.International journal of molecular sciences · 2021Article
- Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors.Journal of medical genetics · 2021Article
- Rare deleterious germline variants and risk of lung cancer.NPJ precision oncology · 2021Article
- Duo Shared Genomic Segment analysis identifies a genome-wide significant risk locus at 18q21.33 in myeloma pedigrees.Journal of translational genetics and genomics · 2021Article
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 1 country.
Funding
Abstract
PARK2, a gene associated with Parkinson disease, is a tumor suppressor in human malignancies. Here, we show that c.823C>T (p.Arg275Trp), a germline mutation in PARK2, is present in a family with eight cases of lung cancer. The resulting amino acid change, p.Arg275Trp, is located in the highly conserved RING finger 1 domain of PARK2, which encodes an E3 ubiquitin ligase. Upon further analysis, the c.823C>T mutation was detected in three additional families affected by lung cancer. The effect size for PARK2 c.823C>T (odds ratio = 5.24) in white individuals was larger than those reported for variants from lung cancer genome-wide association studies. These data implicate this PARK2 germline mutation as a genetic susceptibility factor for lung cancer. Our results provide a rationale for further investigations of this specific mutation and gene for evaluation of the possibility of developing targeted therapies against lung cancer in individuals with PARK2 variants by compensating for the loss-of-function effect caused by the associated variation.
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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.