F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients

Jung, Yunyoung; Ha, Hongil; Jung, Soon-Hee; Lee, Min Goo; Lee, Hyean-Woo; Yoon, Jin‐Ha; Choi, Jong-Whan; Yeh, Byung‐Il

doi:10.1038/emm.2001.6

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…A large cohort study conducted by Neglia et al [32] demonstrated that the genetic variation of the CFTR gene is associated with a moderate increase (1.4 fold) in the risk of lung cancer, and CFTR gene mutation has been reported in lung cancer patients [50,51] . Epigenetic modifications such as DNA methylation regulate gene expression to maintain cell growth and development.…”

Section: Cftr and Other Cancersmentioning

confidence: 99%

Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

Hou

Guan

Yang

et al. 2016

WJGO

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Cystic fibrosis transmembrane conductance regulator (CFTR), a glycoprotein with 1480 amino acids, has been well established as a chloride channel mainly expressed in the epithelial cells of various tissues and organs such as lungs, sweat glands, gastrointestinal system, and reproductive organs. Although defective CFTR leads to cystic fibrosis, a common genetic disorder in the Caucasian population, there is accumulating evidence that suggests a novel role of CFTR in various cancers, especially in gastroenterological cancers, such as pancreatic cancer and colon cancer. In this review, we summarize the emerging findings that link CFTR with various cancers, with focus on the association between CFTR defects and gastrointestinal cancers as well as the underlying mechanisms. Further study of CFTR in cancer biology may help pave a new way for the diagnosis and treatment of gastrointestinal cancers.

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Section: Cftr and Other Cancersmentioning

confidence: 99%

Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

Hou

Guan

Yang

et al. 2016

WJGO

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“…Meanwhile, mutations and lowpenetrance polymorphisms in the CFTR gene have been found in patients with various cancers, including pancreatic cancer [6][7][8][9][10], melanoma [11,12], breast cancer [12,13], colon cancer [12], and lung cancer [14,15]. Prostate cancer has been reported in CF patients [16] and atypical CF patients [17], and the incidence seemed to be lower than expected [16].…”

Section: Introductionmentioning

confidence: 99%

“…Nonfunctional CFTR has been suggested to suppress tumor growth and proliferation [21]. Mutations and polymorphisms in CFTR gene can cause failure of CFTR, therefore may be involved in the pathogenesis of some cancers [6][7][8][9][10][11][12][13][14][15][16]. It has been suggested that interactions between CFTR polymorphisms and environmental factors might play a role in the development of pancreatic cancer [7,8].…”

Section: Introductionmentioning

confidence: 99%

Cystic fibrosis transmembrane conductance regulator (CFTR) gene 5T allele may protect against prostate cancer: A case-control study in Chinese Han population

Qiao

Liu

et al. 2008

Journal of Cystic Fibrosis

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“…However, gradual changes in DNA methylation occur with age [ 102 ]. Of note, hypermethylation of CFTR or the F508del CFTR has been suggested as a tumour risk biomarker for young CF patients [ 100 , 103 ].…”

Section: Cellular Senescence Is Associated With the High Risk Of Cancmentioning

confidence: 99%

Is cellular senescence involved in cystic fibrosis?

et al. 2019

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Pulmonary disease is the main cause of the morbidity and mortality of patients affected by cystic fibrosis (CF). The lung pathology is dominated by excessive recruitment of neutrophils followed by an exaggerated inflammatory process that has also been reported to occur in the absence of apparent pathogenic infections. Airway surface dehydration and mucus accumulation are the driving forces of this process. The continuous release of reactive oxygen species and proteases by neutrophils contributes to tissue damage, which eventually leads to respiratory insufficiency. CF has been considered a paediatric problem for several decades. Nevertheless, during the last 40 years, therapeutic options for CF have been greatly improved, turning CF into a chronic disease and extending the life expectancy of patients. Unfortunately, chronic inflammatory processes, which are characterized by a substantial release of cytokines and chemokines, along with ROS and proteases, can accelerate cellular senescence, leading to further complications in adulthood. The alterations and mechanisms downstream of CFTR functional defects that can stimulate cellular senescence remain unclear. However, while there are correlative data suggesting that cellular senescence may be implicated in CF, a causal or consequential relationship between cellular senescence and CF is still far from being established. Senescence can be both beneficial and detrimental. Senescence may suppress bacterial infections and cooperate with tissue repair. Additionally, it may act as an effective anticancer mechanism. However, it may also promote a pro-inflammatory environment, thereby damaging tissues and leading to chronic age-related diseases. In this review, we present the most current knowledge on cellular senescence and contextualize its possible involvement in CF.

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F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients

Cited by 6 publications

References 10 publications

Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

Cystic fibrosis transmembrane conductance regulator (CFTR) gene 5T allele may protect against prostate cancer: A case-control study in Chinese Han population

Is cellular senescence involved in cystic fibrosis?

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