Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility

Bau, Da Tian; Chang, Chao Hsiang; Tsai, Ming Hsui; Chiu, Chang Fang; Tsou, Yung An; Wang, Rou Fen; Tsai, Chia Wen; Tsai, Ru Yin

doi:10.1002/lary.21009

Cited by 43 publications

(32 citation statements)

References 45 publications

(48 reference statements)

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“…A remarkable risk was indicated in the nonsmoker subgroup, which is in agreement with major previous studies (Bau et al, 2010;Wang et al, 2011;Liu et al, 2014;Shen et al, 2014). Shen's study also reported that increased risk was associated with ATM-111 (G>A) AA genotype and lung adenocarcinoma in nonsmokers without exposure to cooking oil fumes.…”

Section: Discussionsupporting

confidence: 92%

“…The results suggested that carrying at least one A allele, especially ATM-111 (G>A) AA genotype, significantly increased the susceptibility to overall cancer, which is similar to the conclusion of individual case-control studies (Bau et al, 2010;Wang et al, 2011;Liu et al, 2014).…”

Section: Discussionsupporting

confidence: 71%

“…Among them, ATM-111 (G>A), a common functional SNP in the promoter region of the ATM gene, was reported to be a binding site of transcription factors that affect the ATM expression Zhang et al, 2010). Early epidemiological studies have identified ATM-111 (G>A) polymorphism as a strong risk factor in lung, breast, and oral cancers (Bau et al, 2010;Lo et al, 2010;Hsia et al, 2013;Zhao et al, 2013;Liu et al, 2014). However, inconsistent results were reported in thyroid cancer, leukemia, and other cancers (Pharoah et al, 2007;Zhao et al, 2013;Damiola et al, 2014;Song et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Effect of ATM–111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis

Huang

Zhang

Zeng

2016

Genetic Testing and Molecular Biomarkers

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 71%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Effect of ATM–111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis

Huang

Zhang

Zeng

2016

Genetic Testing and Molecular Biomarkers

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“…This is the first study to reveal an interaction between MMP1 1607 genotype and cigarette smoking on the susceptibility to oral cancer. Long-term tobacco smoking and areca chewing have been shown to contribute to etiology of oral cancer development (9,10,(41)(42)(43)(44). The results showed that gene-environment interaction was not obvious between MMP-8 genotypes and personal risk behaviors, alcohol drinking, cigarette smoking or areca chewing.…”

Section: Discussionmentioning

confidence: 99%

The Contribution of Matrix Metalloproteinase-8 Promoter Polymorphism to Oral Cancer Susceptibility

Hung

Tsai

Shih

et al. 2017

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“…Asian population [122]. Promoter hypermethylation of ATM has been linked with early age of onset and poor prognosis in one mixed subsite study [123], however this has not been reproduced in a large oral cavity cancer series [124].…”

Section: (B) the Dna Damage Responsementioning

confidence: 99%

Individualising care of tongue cancer using markers of genomic stability

Jenkins¹

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Treatment outcomes and prognostic accuracy for oral tongue cancer has had little substantial improvement in the last 20 years. Adjuvant therapy toxicity is high, and there are no clinical tests that accurately stratify which high-risk cancers are likely to benefit, and which will recur despite treatment. Genomic instability is an inherent force in all cancer, however there are substantial differences in which defective repair pathways cause malignancy and contribute to invasion and metastasis.Tongue cancer is relatively aetiologically homogenous, as it is associated mostly with tobacco exposure, exhibits early lymphatic invasion, and is sensitive to particular DNA-damaging agents, making it an attractive disease target for investigating the prognostic potential of genomic stability markers. The aim of this study is to evaluate the prognostic and predictive implications of genomic instability in primary oral tongue cancer.Molecular tumour diagnostics is a burgeoning field, complicated by a paucity of wellpowered trials demonstrating clinical outcomes. DNA repair proteins as biomarkers have been mostly studied in genetic assays, from severe repair syndrome phenotypes to BRCA gene inactivation in breast and ovarian cancer. De-novo mutations in repair genes have been less frequently characterized across sporadic or exposure-related cancers. Almost all cancers exhibit mutation of nuclear DNA resulting in deregulation of the cell cycle and repair process. The most deleterious lesion is the double-strand break (DSB), and defects in this repair pathway cause both increased aggressive features (heterogeneity, invasion and metastasis) and sensitivity to chemoradiotherapy. This study will examine eight markers of genomic stability across three principal domains;1. Markers of repair of specific lesions induced by standard chemotherapy for oral tongue cancer (treatment prediction) 2. Markers implicated in genetic susceptibility studies in oral squamous cell cancer (phenotype stratification) 3 3. Markers of the DNA damage response and DSB repair (genomic stability)A key study strategy is the creation and utilisation of a tissue microarray resource to economically assess the relatively large number of markers in the context of limited source tissue. A microarray of fifty-five (55) included patients was constructed from stored surgical specimen blocks. Immunohistochemical stains were performed, and grading scales constructed under the guidance of a clinical pathologist (Dr Duncan Lambie).The hypothesis of this study is that genomic instability of primary tumours is a characteristic that is important for both prognosis and treatment prediction, and that this can be quantified using immunohistochemical methods. We have identified two important patient subgroups that show significant prognostic differentiation in our markers and discuss the implications for clinical management. I acknowledge that an electronic copy of my thesis must be lodged with the University Library and, subject to the policy and procedures of The Univ...

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Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility

Abstract: The ATM rs189037 A allele is correlated with oral cancer susceptibility, and this polymorphism may be a useful marker for oral cancer prevention and early detection.

Cited by 43 publications

References 45 publications

Effect of ATM–111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis

Effect of ATM–111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis

The Contribution of Matrix Metalloproteinase-8 Promoter Polymorphism to Oral Cancer Susceptibility

Individualising care of tongue cancer using markers of genomic stability

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