Association of CFTR gene polymorphisms with papillary thyroid cancer

Oh, In‐Hwan; Oh, Chang‐Mo; Yoon, Tai-Young; Choi, Joong-Myung; Kim, Su Kang; Eun, Young Gyu; Chung, Dae Han; Kwon, Kee Hwan; Choe, Bong-Keun

doi:10.3892/ol.2011.479

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…Cystic fibrosis is also correlated with an increased risk of thyroid cancer [ 29 ]. Oh et al [ 30 ] reported that in PTC, two SNPs (rs4148682, promoter; rs213950, p.V470M) in CFTR have prognostic significance and may be associated with clinical features such as multifocality, cancer location, and cervical LN metastasis. In the TCGA database, the missense L702I mutation in CFTR was detected in a multifocal PTC (3.2 cm in the great dimension) along with N0 tumors.…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis

Kim¹,

Kwon²,

Jang³

et al. 2021

Endocrinol Metab

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Background: Early identification of patients with high-risk papillary thyroid microcarcinoma (PTMC) that is likely to progress has become a critical challenge. We aimed to identify somatic mutations associated with lateral neck lymph node (LN) metastasis (N1b) in patients with PTMC.Methods: Whole-exome sequencing (WES) of 14 PTMCs with no LN metastasis (N0) and 13 N1b PTMCs was performed using primary tumors and matched normal thyroid tissues.Results: The mutational burden was comparable in N0 and N1b tumors, as the median number of mutations was 23 (range, 12 to 46) in N0 and 24 (range, 12 to 50) in N1b PTMC (P=0.918). The most frequent mutations were detected in PGS1, SLC4A8, DAAM2, and HELZ in N1b PTMCs alone, and the K158Q mutation in PGS1 (four patients, Fisher’s exact test P=0.041) was significantly enriched in N1b PTMCs. Based on pathway analysis, somatic mutations belonging to the receptor tyrosine kinase-RAS and NOTCH pathways were most frequently affected in N1b PTMCs. We identified four mutations that are predicted to be pathogenic in four genes based on Clinvar and Combined Annotation-Dependent Depletion score: BRAF, USH2A, CFTR, and PHIP. A missense mutation in CFTR and a nonsense mutation in PHIP were detected in N1b PTMCs only, although in one case each. BRAF mutation was detected in both N0 and N1b PTMCs.Conclusion: This first comprehensive WES analysis of the mutational landscape of N0 and N1b PTMCs identified pathogenic genes that affect biological functions associated with the aggressive phenotype of PTMC.

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Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis

Kim¹,

Kwon²,

Jang³

et al. 2021

Endocrinol Metab

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“…CFTR , a cAMP-activated chloride channel widely distributed in the epithelial cells of various tissues (28), plays an important role in maintaining cell homeostasis and is associated with metabolism (29). Mutations in CFTR are responsible for regulation of epithelial ion and water transport and fluid homeostasis, which affects the epithelial tissue of various organ systems, including the urogenital, respiratory and gastrointestinal systems (30). In addition, CFTR mutation increases the risk of various types of cancer, including lung, breast and colon cancer (31).…”

Section: Discussionmentioning

confidence: 99%

Identification of CFTR as a novel key gene in chromophobe renal cell carcinoma through bioinformatics analysis

Wang

Chai

2019

Oncol Lett

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Chromophobe renal cell carcinoma (chRCC), the third most common histological subtype of RCC, comprises 5–7% of all RCC cases. The aim of the present study was to identify potential biomarkers for chRCC and to examine the underlying mechanisms. A total of 4 profile datasets were downloaded from the Gene Expression Omnibus database to identify differentially expressed genes (DEGs). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses of DEGs were performed with the Database for Annotation, Visualization and Integrated Discovery. A protein-protein interaction (PPI) network was constructed to predict hub genes. Hub gene expression within chRCC across multiple datasets, as well as overall survival, were investigated by utilizing the Oncomine platform and UALCAN dataset, separately. A total of 266 DEGs (88 upregulated genes and 168 downregulated genes) were identified from 4 profile datasets. Integrating the results from the PPI network, Oncomine platform and survival analysis, CFTR was screened as a key factor in the prognosis of chRCC. GO and KEGG analysis revealed that 266 DEGs were mainly enriched in 17 terms and 9 pathways. The present study identified key genes and potential molecular mechanisms underlying the development of chRCC, and CFTR may be a potential prognostic biomarker and novel therapeutic target for chRCC.

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“…Although rare, cases of thyroid tumors, melanomas, ovarian cancers, and brain tumors have been reported [17,62,90,96].…”

Section: Other Emerging Cancersmentioning

confidence: 99%

Cystic Fibrosis and Cancer: Unraveling the Complex Role of CFTR Gene in Cancer Susceptibility

Parisi,

Papale,

Pecora

et al. 2023

Cancers

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Cystic fibrosis (CF) is a genetic disorder affecting multiple organs, primarily the lungs and digestive system. Over the years, advancements in medical care and treatments have significantly increased the life expectancy of individuals with CF. However, with this improved longevity, concerns about the potential risk of developing certain types of cancers have arisen. This narrative review aims to explore the relationship between CF, increased life expectancy, and the associated risk for cancers. We discuss the potential mechanisms underlying this risk, including chronic inflammation, immune system dysregulation, and genetic factors. Additionally, we review studies that have examined the incidence and types of cancers seen in CF patients, with a focus on gastrointestinal, breast, and respiratory malignancies. We also explore the impact of CFTR modulator therapies on cancer risk. In the gastrointestinal tract, CF patients have an elevated risk of developing colorectal cancer, pancreatic cancer, and possibly esophageal cancer. The underlying mechanisms contributing to these increased risks are not fully understood, but chronic inflammation, altered gut microbiota, and genetic factors are believed to play a role. Regular surveillance and colonoscopies are recommended for early detection and management of colorectal cancer in CF patients. Understanding the factors contributing to cancer development in CF patients is crucial for implementing appropriate surveillance strategies and improving long-term outcomes. Further research is needed to elucidate the molecular mechanisms involved and develop targeted interventions to mitigate cancer risk in individuals with CF.

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Association of CFTR gene polymorphisms with papillary thyroid cancer

Cited by 5 publications

References 19 publications

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis

Identification of CFTR as a novel key gene in chromophobe renal cell carcinoma through bioinformatics analysis

Cystic Fibrosis and Cancer: Unraveling the Complex Role of CFTR Gene in Cancer Susceptibility

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