AI Article Synopsis
- Lung cancer is a varied disease, with non-small cell lung cancer (NSCLC) making up 80% of cases and small cell lung cancer (SCLC) 20%.
- A study was conducted using a high-throughput genotyping method to analyze genetic variants in 723 samples, including 162 NSCLC patients and 592 healthy controls.
- Six specific genetic variants were found to significantly relate to NSCLC risk in the Jammu and Kashmir population, showing promise for further research to uncover the genetic factors linked to this type of lung cancer.
Article Abstract
Lung cancer is genetically diverse and a major health burden. Non-small cell lung cancer (NSCLC) accounts for 80% of total lung cancer cases and 20% cases are Small cell lung cancer (SCLC). The present case-control association study focused on the cost effective high throughput genotyping using Agena MassARRAY matrix-assisted laser desorption/ionization-time of flight, mass spectrometry (MALDI-TOF) platform to analyze the genetic association of candidate genetic variants. We performed multiplex PCR and genotyped twelve single nucleotide polymorphisms (SNPs) in 723 samples (162 NSCLC cases and 592 healthy controls). These genetic variants were selected from literature for their association with various cancers worldwide and this is the first study from the region to examine these critically important genetic variants. With prospective case-control association study design, twelve variants from ten genes were evaluated. Amongst these six variants, TCF21 (rs12190287), ERCC1 (rs2298881, 11615), ERCC5 (rs751402), ARNTL (rs4757151), BRIP1 (rs4986764) showed significant association with NSCLC risk (p ≤ 0.003) in Jammu and Kashmir population. In-silico findings of these genetic variants showed remarkable functional roles that needs in-vitro validations. It is further anticipated that such case control studies will help us in understanding the missing heritability of non-small cell lung cancer.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163781 | PMC |
| http://dx.doi.org/10.1038/s41598-021-90742-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mechanism-guided engineering of a minimal biological particle for genome editing.
Proc Natl Acad Sci U S A
January 2025
Innovative Genomics Institute, University of California, Berkeley, CA 94720.
The widespread application of genome editing to treat and cure disease requires the delivery of genome editors into the nucleus of target cells. Enveloped delivery vehicles (EDVs) are engineered virally derived particles capable of packaging and delivering CRISPR-Cas9 ribonucleoproteins (RNPs). However, the presence of lentiviral genome encapsulation and replication proteins in EDVs has obscured the underlying delivery mechanism and precluded particle optimization.
View Article and Find Full Text PDFBest practices in the management of thyroid dysfunction induced by immune checkpoint inhibitors.
Eur Thyroid J
January 2025
D Yabe, Department of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine Faculty of Medicine, Kyoto, Japan.
Immune checkpoint inhibitors (ICIs) frequently cause immune-related adverse events (irAEs), with thyroid irAEs being the most common endocrine-related irAEs. The incidence of overt thyroid irAEs ranged 8.9-22.
View Article and Find Full Text PDFRefractory small cell lung cancer with pancreatic metastasis: A case report.
Medicine (Baltimore)
January 2025
Department of Respiratory and Critical Care Medicine, The Affiliated Hospital of Inner Mongolia Medical University, Inner Mongolia, Hohhot, China.
Rationale: The occurrence of refractory small cell lung cancer (rSCLC) with pancreatic metastasis is a relatively rare clinical condition, which is typically accompanied by a poor prognosis and rapid disease progression.
Patient Concerns: A 65-year-old male farmer from China was diagnosed with limited-stage small cell lung cancer (SCLC) 8 months ago. Following 6 cycles of EP chemotherapy, the patient's tumor response showed partial relief.
Study on mechanism of Spatholobi Caulis in the treatment of the hand-foot skin reaction induced by targeted drug therapy based on network pharmacology and molecular docking: An observational study.
Medicine (Baltimore)
January 2025
Department of Traditional Chinese Medicine, Shanghai Fourth People's Hospital Affiliated to Tongji University of Medicine, Shanghai, China.
Based on network pharmacology and molecular docking methods, this study explored its active compounds and confirmed its potential mechanism of action against Hand-foot skin reaction induced by tumor-targeted drugs. Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform and UniProt Database were used to obtain the active ingredients and target proteins of Spatholobi Caulis. All hand-foot skin reaction (HFSR)-related targets were obtained with the help of the Human Gene Database, Online Mendelian Inheritance in Humans (OMIM), DisGeNET and DrugBank databases.
View Article and Find Full Text PDFParaspinal synovial sarcoma mimicking tuberculosis: A case report and literature review.
Medicine (Baltimore)
January 2025
Department of Bone and Joint Surgery, the First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Rationale: Synovial sarcoma (SS) is a rare and highly malignant soft tissue sarcoma. When SS occurs in atypical locations, it can present significant diagnostic challenges. We report a case of paraspinal SS initially misdiagnosed as spinal tuberculosis, highlighting the diagnostic difficulties and the importance of considering SS in the differential diagnosis.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!