The Int7G24A variant of transforming growth factor-beta receptor type I is a risk factor for colorectal cancer in the male Spanish population: a case-control study

Castillejo, Adela; Mata-Balaguer, Trinidad; Guarinós, Carla; Martínez-Cantó, Ana; Barberá, Víctor Manuel; Montenegro, Paola; Ochoa, Enrique; Lázaro, Rafael; Guillén‐Ponce, Carmen; Carrato, Alfredo; Soto, José Luís

doi:10.1186/1471-2407-9-406

Cited by 13 publications

(4 citation statements)

References 23 publications

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“…The same study also reported one somatic mutation, resulting in a change of serine to phenylalanine at codon 57 of TGFBR1 [141]. Interestingly, the Int7G24A SNP is also associated with increased risks of osteosarcoma [179], colorectal, and breast cancer [180,181], suggestive of its general involvement in cancer predisposition.…”

Section: Bladder Cancermentioning

confidence: 79%

TGF-β and microRNA Interplay in Genitourinary Cancers

Bogusławska¹,

Kryst

Poletajew

et al. 2019

Cells

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Genitourinary cancers (GCs) include a large group of different types of tumors localizing to the kidney, bladder, prostate, testis, and penis. Despite highly divergent molecular patterns, most GCs share commonly disturbed signaling pathways that involve the activity of TGF-β (transforming growth factor beta). TGF-β is a pleiotropic cytokine that regulates key cancer-related molecular and cellular processes, including proliferation, migration, invasion, apoptosis, and chemoresistance. The understanding of the mechanisms of TGF-β actions in cancer is hindered by the “TGF-β paradox” in which early stages of cancerogenic process are suppressed by TGF-β while advanced stages are stimulated by its activity. A growing body of evidence suggests that these paradoxical TGF-β actions could result from the interplay with microRNAs: Short, non-coding RNAs that regulate gene expression by binding to target transcripts and inducing mRNA degradation or inhibition of translation. Here, we discuss the current knowledge of TGF-β signaling in GCs. Importantly, TGF-β signaling and microRNA-mediated regulation of gene expression often act in complicated feedback circuits that involve other crucial regulators of cancer progression (e.g., androgen receptor). Furthermore, recently published in vitro and in vivo studies clearly indicate that the interplay between microRNAs and the TGF-β signaling pathway offers new potential treatment options for GC patients.

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Section: Bladder Cancermentioning

confidence: 79%

TGF-β and microRNA Interplay in Genitourinary Cancers

Bogusławska¹,

Kryst

Poletajew

et al. 2019

Cells

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“…In this meta-analysis, 13 studies 12 13 14 17 18 19 20 21 22 23 24 25 26 were identified on the electronic databases (PubMed, Embase, Web of Science and Chinese National Knowledge Infrastructure) according to the inclusion and exclusion criteria. The study identification and selection progression was summarized in Fig.…”

Section: Resultsmentioning

confidence: 99%

Association between Int7G24A rs334354 polymorphism and cancer risk: a meta-analysis of case-control studies

Tong

Wei

et al. 2015

Sci Rep

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Accumulating evidences have suggested the potential association between Int7G24A (rs334354) polymorphism and cancer risk. However, results from epidemiological studies are controversial. We thus conducted this meta-analysis to clarify the association. Relevant studies were identified on electronic databases according to the inclusion criteria. A total of 13 case-control studies containing 4092 cases and 5909 controls were included in our meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the association. The results of the overall population had suggested that Int7G24A polymorphism had an increased risk for cancer, reaching significant levels in the 2 genetic models (allele model, OR = 1.25, 95% CI 1.09-1.42, P = 0.001; dominant model, OR = 1.24, 95% CI 1.06-1.46, P < 0.008). Besides, significant association was found among Asian population (allele model, OR = 1.27, 95% CI 1.11-1.45, P < 0.001; dominant model, OR = 1.28, 95% CI 1.11-1.49, P < 0.001), whereas there was non-significant relationship detected among Caucasian population (allele model, OR = 1.08, 95% CI 0.92-1.26, P = 0.352; dominant model, OR = 1.05, 95% CI 0.87-1.26, P = 0.639). The present meta-analysis had suggested that Int7G24A polymorphism of gene TGFBR1 involved in the transforming growth factor beta (TGF-β) signaling pathway had a significantly increased risk for cancer development.

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“…In addition to the *6A allele, an intronic SNP (Int7G24A, rs334354) in the TGFBR1 gene has also been investigated in relation to breast cancer risk. However, the Int7G24A variant was not associated with breast cancer risk or clinical presentation of the disease including prognosis [48]. …”

Section: Characterization Of Tgfbr1*6amentioning

confidence: 99%

TGFBR1 Signaling and Breast Cancer

Moore-Smith

Pasche

2011

J Mammary Gland Biol Neoplasia

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Over the past decade mutations discovered in genes such as BRCA1, BRCA2, TP53 and PTEN, have emerged as high-penetrance susceptibility genes and are clinically relevant for determination of breast cancer risk. Genetic counseling and subsequent screening for mutations and gene rearrangement has improved patient outcome through early detection and prophylactic interventions in patients with familial breast cancer syndromes. However, these high-penetrance genes only account for a small fraction of the hereditary linked breast cancers. It is currently believed that low-penetrance susceptibility alleles and/or environmental factors may play an important role in the remaining cases. TGFBR1*6A (*6A) is a common hypomorphic variant of the type I TGF-β receptor gene (TGFBR1) that has been associated with risk for several forms of cancer, in particular breast cancer. Several epidemiological studies have suggested that patients who carry the *6A allele have an increased risk of breast cancer. Furthermore, functional analysis suggests that this mutation alters TGF-β signaling and promotes tumorigenesis. Although a decade of research has provided basic information in regards to the prevalence of this mutation in several cancer types and populations the molecular underpinning of its functional effects are poorly understood. A better understanding of the molecular mechanism of TGFBR1 signaling in breast cancer may have an impact on breast cancer risk assessment and breast cancer prevention.

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The Int7G24A variant of transforming growth factor-beta receptor type I is a risk factor for colorectal cancer in the male Spanish population: a case-control study

Cited by 13 publications

References 23 publications

TGF-β and microRNA Interplay in Genitourinary Cancers

TGF-β and microRNA Interplay in Genitourinary Cancers

Association between Int7G24A rs334354 polymorphism and cancer risk: a meta-analysis of case-control studies

TGFBR1 Signaling and Breast Cancer

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