Role of TGFB1 polymorphism in the development of metastatic brain tumors in non-small cell lung cancer patients

Wang, H.B.; Song, Wei; Liu, H.Q.; Fang, Fu‐Min; Xiao, Yao

doi:10.4238/2015.april.17.3

Cited by 13 publications

(9 citation statements)

References 21 publications

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“…These 2 genes were associated with the tumour growth factor (TGF)beta signaling pathway, 32 and it has been reported that the TGF-beta signaling pathway is related to BM. 33 Besides, TP53 and EGFR mutations were observed in both primary and metastatic lesions, which is consistent with a previous study. 31 In the future, more mutations may be found based on new techniques, such as ctDNA detection of cerebrospinal fluid (CSF), which has attracted much attention because it may also display the genetic information of BM and have therapeutic indications.…”

Section: Discussionsupporting

confidence: 92%

Genetic Heterogeneity Between Paired Primary and Brain Metastases in Lung Adenocarcinoma

Liu

Han

et al. 2020

Clin Med Insights Oncol

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Purpose: About one-third of nonsmall cell lung cancer (NSCLC) patients develop brain metastases (BM). However, there is an unmet need for early diagnosis and treatment of BM. The precise mechanism for BM is still unknown. However, the genetic heterogeneity between primary tumor and paired BM indicates that sampling from the primary tumor may not be able to fully represent the mutational status in metastases. In this study, the genetic heterogeneity of primary lung adenocarcinoma and paired BM was analyzed. Patients and methods: A total of 11 paired samples of primary tumors and BM from lung cancer patients were included, in which 7 paired samples of patients were finally analyzed. Samples were sequenced by whole-exome sequencing (WES) to investigate the common and unique mutations in the primary tumors and BM, and the similarities and differences in copy number variation (CNV). Results: The consistency of gene mutation between primary lung adenocarcinoma and paired BM was 33% to 86%. FAM129C and ADAMTSs specifically mutated in BM, along with NKX2-1 high amplification and SAMD2/4 copy number deletion. Conclusion: The consistency of gene mutation between primary lung adenocarcinoma and corresponding BM is relatively high, while the individual differences were significant. FAM129C and ADAMTSs mutations and high amplification of NKX2-1 may be related to BM of lung cancer. The loss of copy number of SAMD2/4 may be a potential therapeutic target for BM from lung adenocarcinoma.

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Section: Discussionsupporting

confidence: 92%

Genetic Heterogeneity Between Paired Primary and Brain Metastases in Lung Adenocarcinoma

Liu

Han

et al. 2020

Clin Med Insights Oncol

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“…These discrepancies may be reconciled by differences in ethnic origin between our Tunisian population and Asian women. A possible association between the TGF-β1 rs1800469 and the risk of cancers yielded controversial results, in part due to the type of cancer and ethnic background of study participants [50][51][52][53][54][55][56][57]. Functionally, the TGF-β1 promoter variant rs1800469 (-509C/T) was associated with altered TGF-β1 plasma level and emphasized by the almost double level of circulating TGF-β1 in heterozygous (C/T) and homozygous (T/T) as compared to homozygous (C/C) genotype carriers [58].…”

Section: Discussionmentioning

confidence: 99%

Single nucleotide polymorphism of transforming growth factor-β1 and interleukin-6 as risk factors for ovarian cancer

Ahmed¹,

Zidi²,

Almawi³

et al. 2020

cejoi

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“…When −800G/A (A>G) exist, the binding activity of AP1 with this site is increased, which would promote the transcription and translation of the TGF-β1 gene (12). For HIF-1, the presence of either A or G is not relevant and can be combined, however, for G, the competitive binding with AP1 would be formed (13). TGF-β1 gene polymorphism is also associated with self-autoimmune diseases, repair in trauma, inflammatory reaction, organ fibrosis and other diseases (14,15).…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of −800G/A and +915G/C in TGF-β1 gene and lung cancer susceptibility

et al. 2017

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We studied the relationship between the polymorphisms of −800G/A and +915G/C in transforming growth factor-β1 (TGF-β1) gene and lung cancer susceptibility. The sequence-specific primer polymerase chain reaction (PCR-SSP) technique was used to test 156 non-small cell lung cancer (NSCLC) patients that were selected as the observation group and 156 patients with pneumonia and tuberculosis that were selected as the control group (age and gender 1:1 proximal matching principle) and the polymorphisms of the first exon −800G/A and +915G/C TGF-β1 genes. The expression of TGF-β1 levels in peripheral blood was detected using ELISA. The proportion of −800G/A gene AA subtype and A allelic gene in the observation group was significantly higher than that in the control group, while the proportion of +915G/C gene CC subtype and C allelic gene was also significantly higher than that in the control group (P<0.05). The cancer risk [odds ratio (OR)] of patients with A allelic gene in −800G/A gene was 4.8 (95% CI=2.563–6.537, P<0.05), while the cancer risk (OR) of patients with C allelic gene in +915G/C gene was 4.7 (95% CI=2.317–5.864, P<0.05). The serum TGF-β1 expression levels of −800G/A gene AA subtype in the observation group was significantly higher than the GG type, GA type and the control group, while the TGF-β1 level of +915G/C gene CC subtype was significantly higher than the GG type, GC type and the control group (P<0.05). Therefore, the polymorphisms of −800G/A and +915G/C in TGF-β1 gene are closely related to the lung cancer susceptibility.

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Role of TGFB1 polymorphism in the development of metastatic brain tumors in non-small cell lung cancer patients

Cited by 13 publications

References 21 publications

Genetic Heterogeneity Between Paired Primary and Brain Metastases in Lung Adenocarcinoma

Genetic Heterogeneity Between Paired Primary and Brain Metastases in Lung Adenocarcinoma

Single nucleotide polymorphism of transforming growth factor-β1 and interleukin-6 as risk factors for ovarian cancer

Polymorphisms of −800G/A and +915G/C in TGF-β1 gene and lung cancer susceptibility

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