NBS1 Glu185Gln polymorphism and susceptibility to urinary system cancer: a meta-analysis

Zhang, Ying; Huang, Yushan; Lin, Wenqian; Zhang, Shaodan; Li, Qiwen; Hu, Ye‐Zhu; Zheng, Rong; Tang, Tao; Li, Xi‐Zhao; Zheng, Xiaohui

doi:10.1007/s13277-014-2346-6

Cited by 7 publications

(22 citation statements)

References 36 publications

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“…NBS1 rs1805794 polymorphism, which has frequently been studied, is associated with risks of breast cancer [ 27 ], cervix carcinoma [ 31 ], nasopharyngeal carcinoma [ 20 ], and bladder cancer [ 32 ]. Moreover, functional studies have demonstrated that the rs1805794G > C is functional and could recede the DNA repair capacity of NBS1 [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma

Liao

Zhao

et al. 2018

BMC Cancer

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BackgroundNijmegen breakage syndrome 1 (NBS1), as a key protein in the DNA double-strand breaks (DSBs) repair pathway, plays an important role in maintaining genomic stability. Although single nucleotide polymorphisms (SNPs) in NBS1 have frequently been studied in multiple cancers, the relationships of two functional NBS1 polymorphisms (rs2735383 and rs1805794) with laryngeal carcinoma are yet unclear. Therefore, in the present study, we performed a case-control study including 342 cases and 345 controls to analyze the associations between two polymorphisms of NBS1 and the risk of laryngeal carcinoma.MethodsWe used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to determine the genotypes of the functional SNPs in NBS1 gene.ResultsIn comparison with the homozygous rs2735383GG genotype, the CC genotype was significantly associated with an increased risk of laryngeal carcinoma (adjusted OR = 1.884, 95%CI = 1.215–2.921). The rs2735383C variant genotypes (GC + CC) conferred a 1.410-fold increased risk of laryngeal carcinoma (adjusted OR = 1.410, 95%CI = 1.004–1.980). Furthermore, when compared to rs2735383GG genotype in laryngeal carcinoma tissues, the combined GC and CC genotypes exerted a significantly lower mRNA level of NBS1 (P = 0.003). In contrast, no significant association was found between rs1805794G > C polymorphism and cancer risk (adjusted OR = 1.074, 95%CI = 0.759–1.518 for GC; adjusted OR = 1.100, 95%CI = 0.678–1.787 for CC; adjusted OR = 1.079, 95%CI = 0.774–1.505 for GC + CC).ConclusionsThese findings indicate that rs2735383G > C polymorphism in NBS1 may play a crucial role in the development of laryngeal carcinoma.Electronic supplementary materialThe online version of this article (10.1186/s12885-018-4078-2) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma

Liao

Zhao

et al. 2018

BMC Cancer

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“…These tumor histotypes retain their morphologic features, being often referred to as differentiated thyroid carcinoma (DTC) [3,4]. The best-established modifiable risk factor for DTC is IR exposure during childhood and adolescence (radioiodines including 131 I, X-radiation, γ-radiation) [2][3][4][5] and the standard treatment consists of surgical resection (total or near-total thyroidectomy) accompanied by post-thyroidectomy radioiodine (RAI) therapy and TSH suppression [3,4]. The majority of DTC cases is indolent in nature, iodine-avid, and responds favorably to standard therapy.…”

Section: Introductionmentioning

confidence: 99%

“…The widespread use of RAI therapy in the management of DTC relies on the ability of 131 I to be preferentially taken up and concentrated in normal or neoplastic thyroid follicular cells, taking advantage of these cells' specialized mechanism for iodide uptake and accumulation [3,6,7]. Thyrocyte-accumulated 131 I undergoes [β and γ] decay and releases high-energy electrons that inflict devastating DNA damage locally. Thyroid cell death through radiation cytotoxicity ensues, allowing for the ablation of remnant normal thyroid tissue and the eradication of any residual tumor foci [3,6].…”

Section: Introductionmentioning

confidence: 99%

“…Thyroid cell death through radiation cytotoxicity ensues, allowing for the ablation of remnant normal thyroid tissue and the eradication of any residual tumor foci [3,6]. Unfortunately, since other tissues may also concentrate 131 I, its DNA damaging effects may not be limited to the thyroid gland, increasing the risk of RAI-associated secondary malignancies such as soft tissue tumors, colorectal cancer, salivary tumors, and leukemia [3,7]. Since the rising incidence of TC is mostly driven by increased detection of stationary subclinical lesions, concern exists that DTC overdiagnosis may result in potentially harmful overtreatment [2].…”

Section: Introductionmentioning

confidence: 99%

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Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants

Santos

Silva

et al. 2020

Genes

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Radioiodine therapy with 131I remains the mainstay of standard treatment for well-differentiated thyroid cancer (DTC). Prognosis is good but concern exists that 131I-emitted ionizing radiation may induce double-strand breaks in extra-thyroidal tissues, increasing the risk of secondary malignancies. We, therefore, sought to evaluate the induction and 2-year persistence of micronuclei (MN) in lymphocytes from 26 131I-treated DTC patients and the potential impact of nine homologous recombination (HR), non-homologous end-joining (NHEJ), and mismatch repair (MMR) polymorphisms on MN levels. MN frequency was determined by the cytokinesis-blocked micronucleus assay while genotyping was performed through pre-designed TaqMan® Assays or conventional PCR-restriction fragment length polymorphism (RFLP). MN levels increased significantly one month after therapy and remained persistently higher than baseline for 2 years. A marked reduction in lymphocyte proliferation capacity was also apparent 2 years after therapy. MLH1 rs1799977 was associated with MN frequency (absolute or net variation) one month after therapy, in two independent groups. Significant associations were also observed for MSH3 rs26279, MSH4 rs5745325, NBN rs1805794, and tumor histotype. Overall, our results suggest that 131I therapy may pose a long-term challenge to cells other than thyrocytes and that the individual genetic profile may influence 131I sensitivity, hence its risk-benefit ratio. Further studies are warranted to confirm the potential utility of these single nucleotide polymorphisms (SNPs) as radiogenomic biomarkers in the personalization of radioiodine therapy.

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“…p.E185Q; rs1805794 and c.2265 + 541G > C; rs2735383) have also been reported to be associated with risks for several cancer types. Recent meta-analyses for rs1805794 have, however, shown that this variant does not associate with breast cancer risk13141516, while associations with lung cancer and urinary system cancer are still inconclusive13161718. The functional variant rs2735383, localized in in the 3′ UTR of NBS1 , has been shown to modulate the binding ability of microRNA-629 in lung cancer cells and microRNA-509-5p in colorectal cancer cells, affect NBS1 transcriptional activity and decrease NBS1 mRNA and NBS1 protein levels1920.…”

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confidence: 99%

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Liu¹,

Lončar²,

Collée³

et al. 2016

Sci Rep

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NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3′-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1.214, 95% CI = 0.936–1.574, P = 0.144). Because we could not exclude a small effect size due to a limited sample size, we further analyzed imputed rs2735383 genotypes (r2 > 0.999) of 47,640 breast cancer cases and 46,656 controls from the Breast Cancer Association Consortium (BCAC). However, rs2735383CC was not associated with overall breast cancer risk in European (OR = 1.014, 95% CI = 0.969–1.060, P = 0.556) nor in Asian women (OR = 0.998, 95% CI = 0.905–1.100, P = 0.961). Subgroup analyses by age, age at menarche, age at menopause, menopausal status, number of pregnancies, breast feeding, family history and receptor status also did not reveal a significant association. This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.

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NBS1 Glu185Gln polymorphism and susceptibility to urinary system cancer: a meta-analysis

Cited by 7 publications

References 36 publications

NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma

NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma

Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

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