Genotypic distribution of single nucleotide polymorphisms in oral cancer: global scene

Multani, Shaleen; Saranath, Dhananjaya

doi:10.1007/s13277-016-5322-5

Cited by 17 publications

(14 citation statements)

References 87 publications

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“…Approximately 20–30% breast cancers show 40–100 fold elevated levels of Her2 , whereas other cancer types such as ovarian, endometrial, gastric and esophageal cancers were also detected with over-expressed Her2 protein levels 65 – 71 . Single nucleotide polymorphisms (SNPs) are playing an important role in various cancer types and are capable of serving as diagnostic tools 23 – 25 . One such single nucleotide polymorphism with substitution of isoleucine with valine at codon 655 in transmembrane region of Her2 has been found to be playing an important role in development of cancer 72 .…”

Section: Discussionmentioning

confidence: 99%

“…Genetic epidemiological studies indicated association between single nucleotide polymorphisms and different cancers 23 – 25 . Cell cycle regulatory role of Her2 and its importance in prognosis of breast cancer clearly indicates that polymorphism in coding region of Her2 might be associated with either cancer susceptibility risk or resistance.…”

Section: Introductionmentioning

confidence: 99%

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Her2 Ile655Val polymorphism and its association with breast cancer risk: an updated meta-analysis of case-control studies

Krishna

Chaudhary

Panda

et al. 2018

Sci Rep

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Breast cancer (BC) is one of the most common types of cancer in women worldwide. Several factors including genetic and environmental have been linked with susceptibility to development of BC. Her2 is a transmembrane protein with tyrosine kinase activity, overexpressed in several cancers including BC. Various studies in different populations have shown association of Her2 variants with susceptibility to BC, however these results were inconsistent, inconclusive and controversial. To obtain a common conclusive finding, we performed meta-analysis of 35 case-control studies reported earlier including 19, 220 cases and 22, 306 controls. We observed significant association of Her2 Ile655Val polymorphism with susceptibility to development of breast cancer (Overall allele Val vs Ile: OR = 1.130, 95% CI = 1.051–1.216, p = 0.001; Ile-Val vs Ile-Ile: OR = 1.100, 95% CI = 1.016–1.192, p = 0.019; Val-Val+Ile-Val vs Ile-Ile: OR = 1.127, 95% CI = 1.038–1.223, p = 0.004). Subgroup analysis indicated a significant association with susceptibility to breast cancer in African and Asian populations. However, such association was not observed in other ethnic groups. Our findings suggested that Her2 Ile655Val polymorphism is associated with breast cancer risk in overall, Asian and African populations, and can be used as diagnostic marker for BC.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Her2 Ile655Val polymorphism and its association with breast cancer risk: an updated meta-analysis of case-control studies

Krishna

Chaudhary

Panda

et al. 2018

Sci Rep

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“…Numerous studies have provided evidence regarding aberrant expression of tumorigenic genes in OSCC and cancer diagnostic and prognostic biomarkers. Single nucleotide polymorphisms in the coding and noncoding RNA genes have been analyzed most commonly [27][28][29]. This study is the first, to our knowledge, to investigate the role of X-linked genes in saliva in OSCC.…”

Section: Discussionmentioning

confidence: 99%

Absence of Salivary lncRNA-XIST Indicates High Susceptibility to Oral Cancer

Liu¹,

Shieh²,

Wang³

et al. 2018

Preprint

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Oral cancer is one of the most common malignancies worldwide, with a two- or three-fold prevalence among men than among women. Except for lifestyle-related risk factors including smoking, drinking, and betel chewing, family history is a major determinant of risk in the absence of exposure to carcinogens. Genes predicting the susceptibility to oral cancer are associated with cell proliferation, cell invasion, angiogenesis, and DNA repair. Few studies have investigated sex-dependent X-linked gene expression in oral cancer. Hence, this study aimed to analyze salivary X-linked lncRNA-XIST, XIST anti-transcript TSIX, and X-linked tumor suppressor gene LDOC1 expression levels, their role in oral squamous cell carcinoma (OSCC) and correlations among clinicopathological data. Expression levels of these three genes were analyzed via quantitative polymerase chain reaction (qPCR) in the saliva of 59 OSCC patients and 43 healthy controls. Correlations among gene expression levels and clinicopathological characteristics were analyzed. Women lacking salivary XIST were 26-fold more susceptible (P < 0.0001) to OSCC than healthy women. TSIX and LDOC1 expression levels were positively correlated in all subjects, except for men with OSCC. LDOC1 was significantly downregulated in men with OSCC (P = 0.016) and significantly correlated with well-differentiated tumors (P = 0.001).

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“…A similar situation is seen in Asian countries with less than 15% mortality due to tobacco in oral cancer . An inherent role of the genomic constitution is considered as a predisposition or protective factor in oral carcinogenesis . The complex multifactorial molecular landscape of oral cancer encompasses somatic mutations, deregulated expression, epigenetic regulation via DNA methylation, histone modification, and microRNAs, and genomic variants …”

Section: Introductionmentioning

confidence: 99%

Single nucleotide polymorphisms in transcription factor genes associated with susceptibility to oral cancer

Shah

Saranath

Pradhan

2019

J of Cellular Biochemistry

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Oral cancer is a major public health concern in the Asian countries predominated by India which accounts for 33.81% of the annual global oral cancer burden. The well‐established high‐risk factors associated with oral cancer include tobacco, areca nut, alcohol consumption, and high‐risk human papilloma virus types 16/18. Additionally, in the past two decades, the critical role of the genomic constitution of individuals in oral cancer susceptibility has emerged. Accumulating evidence indicates the association of several single nucleotide polymorphisms (SNPs) with oral cancer risk. Thus in the current study, we assessed the association of thirteen SNPs in seven transcription factor genes along with HBB (a control SNP) to identify high‐risk genotypes associated with increased oral cancer risk in an Indian cohort of tobacco habitués. Fourteen SNPs were investigated in 500 patients with oral cancer and 500 clinically healthy long‐term tobacco users as controls of Indian ethnicity. Allelic discrimination real‐time polymerase chain reaction was the method of choice for genotyping the samples. Logistic regression analysis was performed and the association of SNPs with oral cancer risk was estimated using odds ratio (OR) and 95% confidence interval (CI). We observed five SNPs—rs2051526 (ETV6), rs6021247 (NFATC2), rs3757769 (SND1), rs7085532 (TCF7L2), and rs7778413 (SND1) indicating increased oral cancer risk with OR ranging from 1.61 to 34.60. Further, as a proof of concept, the coinheritance of high‐risk genotypes in rs6021247 (NFATC2) GG (OR, 2.77; CI, 2.09‐3.69) and rs7778413 (SND1) CC (OR, 34.60; CI, 17.32‐69.13) reflected further increase in the risk with OR‐49.94 (CI, 16.25‐153.48). The present study indicates the association of transcription factor SNPs with increased oral cancer risk constituting “predictive biomarkers” in oral cancers.

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Genotypic distribution of single nucleotide polymorphisms in oral cancer: global scene

Cited by 17 publications

References 87 publications

Her2 Ile655Val polymorphism and its association with breast cancer risk: an updated meta-analysis of case-control studies

Her2 Ile655Val polymorphism and its association with breast cancer risk: an updated meta-analysis of case-control studies

Absence of Salivary lncRNA-XIST Indicates High Susceptibility to Oral Cancer

Single nucleotide polymorphisms in transcription factor genes associated with susceptibility to oral cancer

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