Association between XRCC3 Thr241Met polymorphism and nasopharyngeal carcinoma risk: evidence from a large-scale case-control study and a meta-analysis

Cui, Qian; Zuo, Xiao Yu; Lian, Yi; Feng, Qi Sheng; Xia, Yun; He, Cai; Chen, Li Zhen; Jia, Wei Hua; Qiang, Hai; Zeng, Yi Xin; Bei, Jin Xin

doi:10.1007/s13277-016-5300-y

Cited by 8 publications

(3 citation statements)

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“…S1 " type="url"/> ), but all cultures demonstrated significant expression of KRT genes consistent with epithelial origin. No known pathogenic cancer mutations or driver genes were identified; however, cancer risk-related probable pathogenic SNPs were reproducibly present in both of the four paired samples subjected to exome sequencing ( ; Agalliu et al, 2010 ; Alvarez-Cubero et al, 2016 ; Cheng et al, 2014 ; Chou et al, 2017 ; Cui et al, 2016 ; Dai et al, 2014 ; Dong et al, 2016 ; Ewart-Toland et al, 2005 ; Guo et al, 2014 ; Hu et al, 2014 ; Huang and Yang, 2015 ; Jiao et al, 2012 ; Johnson et al, 2007 ; Tanaka et al, 2010 ; Tian et al, 2017 ; Xu et al, 2015 ; Yan et al, 2016 ). In GUMC220/221, these included Brca2 rs144848 , TP53 rs1042522, AURKA rs2273535, RET rs1800858 and ADH1B rs1229984.…”

Section: Resultsmentioning

confidence: 99%

Expanding primary cells from mucoepidermoid and other salivary gland neoplasms for genetic and chemosensitivity testing

Alamri

Blancato

et al. 2018

Disease Models &Amp; Mechanisms

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Restricted availability of cell and animal models is a rate-limiting step for investigation of salivary gland neoplasm pathophysiology and therapeutic response. Conditionally reprogrammed cell (CRC) technology enables establishment of primary epithelial cell cultures from patient material. This study tested a translational workflow for acquisition, expansion and testing of CRC-derived primary cultures of salivary gland neoplasms from patients presenting to an academic surgical practice. Results showed that cultured cells were sufficient for epithelial cell-specific transcriptome characterization to detect candidate therapeutic pathways and fusion genes, and for screening for cancer risk-associated single nucleotide polymorphisms (SNPs) and driver gene mutations through exome sequencing. Focused study of primary cultures of a low-grade mucoepidermoid carcinoma demonstrated amphiregulin-mechanistic target of rapamycin-protein kinase B (AKT; AKT1) pathway activation, identified through bioinformatics and subsequently confirmed as present in primary tissue and preserved through different secondary 2D and 3D culture media and xenografts. Candidate therapeutic testing showed that the allosteric AKT inhibitor MK2206 reproducibly inhibited cell survival across different culture formats. By contrast, the cells appeared resistant to the adenosine triphosphate competitive AKT inhibitor GSK690693. Procedures employed here illustrate an approach for reproducibly obtaining material for pathophysiological studies of salivary gland neoplasms, and other less common epithelial cancer types, that can be executed without compromising pathological examination of patient specimens. The approach permits combined genetic and cell-based physiological and therapeutic investigations in addition to more traditional pathologic studies, and can be used to build sustainable bio-banks for future inquiries.This article has an associated First Person interview with the first author of the paper.

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Section: Resultsmentioning

confidence: 99%

Expanding primary cells from mucoepidermoid and other salivary gland neoplasms for genetic and chemosensitivity testing

Alamri

Blancato

et al. 2018

Disease Models &Amp; Mechanisms

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“…Results restricted to Asians were similar. A separate evaluation of the Thr241Met polymorphism in XRCC3 reported a meta-OR of 3.1 under the recessive model, based on four NPC case-control studies in Asians (186).…”

Section: Candidate-gene Studiesmentioning

confidence: 99%

The Evolving Epidemiology of Nasopharyngeal Carcinoma

Chang

Zeng

et al. 2021

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: The epidemiology of nasopharyngeal carcinoma (NPC) has long been a source of fascination due to the malignancy's striking geographic distribution, the involvement of the oncogenic Epstein-Barr virus (EBV), the unique association with intake of Chinese-style salt-preserved fish, and etiologic heterogeneity by histologic subtype.Methods: This review summarizes the current epidemiologic literature on NPC, highlighting recent results from our populationbased case-control study in southern China.Results: Findings from our case-control study provide new insight into the epidemiology of NPC, including a diminished role of Chinese-style salt-preserved fish, a profound impact of EBV genetic sequence variation, modest positive associations with passive smoking and household air pollution, and possible effects of oral health and the oral microbiome. Recent findings from other studies include a protective association with infectious mononucleosis, suggesting a causal role of early EBV infection; familial risk conferred by shared genetic variation in the host antibody-mediated immune response to EBV infection; and an unclear association with occupational exposure to formaldehyde.Conclusions: To shed further light on the interplay of environmental, genetic, and viral causes of NPC, large pooled studies must accumulate sufficient cases with detailed exposure data.Impact: New epidemiologic findings have reshaped the causal model for NPC.

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“…The etiology of NPC is a multifactorial process, involving genetic, viral, and environmental factors [2]. Large-scale case-control association studies and familial linkage studies have confirmed the genetic contribution to NPC predisposition, by revealing multiple susceptibility loci of NPC, such as HLA genes [3–6], TNFRSF19 [5], MECOM [5], GABBR1 [3], XRCC3 [7], ITGA9 [4], TERT-CLPTM1L [8–10], and CIITA [8]. However, these explain only a small fraction of the NPC heritability [11, 12].…”

Section: Introductionmentioning

confidence: 99%

X-chromosome association study reveals genetic susceptibility loci of nasopharyngeal carcinoma

et al. 2019

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BackgroundThe male predominance in the incidence of nasopharyngeal carcinoma (NPC) suggests the contribution of the X chromosome to the susceptibility of NPC. However, no X-linked susceptibility loci have been examined by genome-wide association studies (GWASs) for NPC by far.MethodsTo understand the contribution of the X chromosome in NPC susceptibility, we conducted an X chromosome-wide association analysis on 1615 NPC patients and 1025 healthy controls of Guangdong Chinese, followed by two validation analyses in Taiwan Chinese (n = 562) and Malaysian Chinese (n = 716).ResultsFirstly, the proportion of variance of X-linked loci over phenotypic variance was estimated in the discovery samples, which revealed that the phenotypic variance explained by X chromosome polymorphisms was estimated to be 12.63% (non-dosage compensation model) in males, as compared with 0.0001% in females. This suggested that the contribution of X chromosome to the genetic variance of NPC should not be neglected. Secondly, association analysis revealed that rs5927056 in DMD gene achieved X chromosome-wide association significance in the discovery sample (OR = 0.81, 95% CI 0.73–0.89, P = 1.49 × 10−5). Combined analysis revealed rs5927056 for DMD gene with suggestive significance (P = 9.44 × 10−5). Moreover, the female-specific association of rs5933886 in ARHGAP6 gene (OR = 0.62, 95%CI: 0.47–0.81, P = 4.37 × 10−4) was successfully replicated in Taiwan Chinese (P = 1.64 × 10−2). rs5933886 also showed nominally significant gender × SNP interaction in both Guangdong (P = 6.25 × 10−4) and Taiwan datasets (P = 2.99 × 10−2).ConclusionOur finding reveals new susceptibility loci at the X chromosome conferring risk of NPC and supports the value of including the X chromosome in large-scale association studies.Electronic supplementary materialThe online version of this article (10.1186/s13293-019-0227-9) contains supplementary material, which is available to authorized users.

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Association between XRCC3 Thr241Met polymorphism and nasopharyngeal carcinoma risk: evidence from a large-scale case-control study and a meta-analysis

Cited by 8 publications

References 37 publications

Expanding primary cells from mucoepidermoid and other salivary gland neoplasms for genetic and chemosensitivity testing

Expanding primary cells from mucoepidermoid and other salivary gland neoplasms for genetic and chemosensitivity testing

The Evolving Epidemiology of Nasopharyngeal Carcinoma

X-chromosome association study reveals genetic susceptibility loci of nasopharyngeal carcinoma

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