Copy number profiling of tumor suppressor genes in head and neck cancer

Yalnız, Zubeyde; Demokan, Semra; Karabulut, Burak; Ulusan, Murat; Süoğlu, Yusufhan; Dalay, Nejat

doi:10.1002/hed.24593

Cited by 4 publications

(2 citation statements)

References 59 publications

(116 reference statements)

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“…As a result, free E2F2 in absence of the complex with Rb can increase the expression of CDKN2A [ 17 , 18 , 19 ]. Some studies have demonstrated that changes in the expression, promoter methylation or copy number deletion of CDKN2A were relatively common in the development and prognosis of OSCC [ 14 , 20 , 21 , 22 , 23 , 24 , 25 ]. There are reports that researchers have observed that decreased CDKN2A expression was associated with OSCC [ 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

Expression Profiles of CDKN2A, MDM2, E2F2 and LTF Genes in Oral Squamous Cell Carcinoma

et al. 2022

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Background: Oral squamous cell carcinoma (OSCC) is one of the most commonly detected neoplasms worldwide. Not all mechanisms associated with cell cycle disturbances are known in OSCC. Examples of genes involved in the control of the cell cycle are CDKN2A, MDM2, E2F2 and LTF. The aim of this study was to examine the possible association between CDKN2A, MDM2, E2F2 and LTF mRNA expression and influence on clinical variables. Methods: The study group consisted of 88 Polish patients. The gene expression levels were assessed by quantitative reverse transcription PCR. Results: We found no statistically significant differences in the expression level of CDKN2A, MDM2, E2F2 and LTF genes in tumour samples compared to margin samples. No association was found between the gene expression levels and clinical parameters, except E2F2. The patients with G2 tumours had a significantly higher gene expression level of E2F2 than patients with low-grade G1 tumours. Conclusions: We have not demonstrated that a change in expression profiles of genes has a significant impact on the pathogenesis of OSCC. It may also be useful to conduct further studies on the use of E2F2 expression profile changes as a factor to describe the invasiveness and dynamics of OSCC development.

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Section: Discussionmentioning

confidence: 99%

Expression Profiles of CDKN2A, MDM2, E2F2 and LTF Genes in Oral Squamous Cell Carcinoma

et al. 2022

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“…The CDKN2A gene encodes the tumor suppressor protein p16, which prevents phosphorylation of retinoblastoma protein and thus halts the cell cycle progression from G1 to S phase (29). Downregulated expression, inactivation or copy number deletion of CDKN2A has been a frequent event in the development of OSCC and is related to the occurrence, development and prognosis of OSCC (29)(30)(31)(32)(33). In addition, it was also found that a CDKN2A/p16 (+) status in head and neck cancer was strongly predictive of poorly differentiated tumors (34).…”

Section: Discussionmentioning

confidence: 99%

A Combined Prediction Model for Lymph Node Metastasis Based on a Molecular Panel and Clinicopathological Factors in Oral Squamous Cell Carcinoma

Wang

Liu

et al. 2021

Front. Oncol.

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ObjectiveLymph node metastasis is the most important factor influencing the prognosis of oral squamous cell carcinoma (OSCC) patients. However, there is no proper method for predicting lymph node metastasis. This study aimed to construct and validate a preoperative prediction model for lymph node metastasis and guide personalized neck management based on the gene expression profile and clinicopathological parameters of OSCC.MethodsBased on a previous study of related genes in OSCC, the mRNA expression of candidate genes was evaluated by real-time PCR in OSCC specimens. In this retrospective study, the gene expression profile and clinicopathological parameters of 112 OSCC patients were combined to construct the best prediction model for lymph node metastasis of OSCC. The model was validated with 95 OSCC samples in this study. Logistic regression analysis was used. The area under the curve (AUC) ultimately determined the diagnostic value of the prediction model.ResultsThe two genes CDKN2A + PLAU were closely related to lymph node metastasis of oral squamous cell carcinoma. The model with the combination of CDKN2A, PLAU, T stage and pathological grade was the best in predicting lymph node metastasis (AUC = 0.807, 95% CI: 0.713-0.881, P=0.0001). The prediction model had a specificity of 96% and sensitivity of 72.73% for stage T1 and T2 OSCC (AUC = 0.855, 95% CI: 0.697-0.949, P=0.0001).ConclusionsHigh expression of CDKN2A and PLAU was associated with lymph node metastasis in OSCC. The prediction model including CDKN2A, PLAU, T stage and pathological grade can be used as the best diagnostic model for lymph node metastasis in OSCC.

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Detection of RB1 Gene Copy Number Variations Using a Multiplex Ligation-Dependent Probe Amplification Method

Dalay

2018

Methods in Molecular Biology

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Multiplex ligation-dependent probe amplification (MLPA) is based on simultaneous multiplex PCR of specific probes that hybridize to multiple different target DNA regions. The method can identify copy number changes, gross gene rearrangements, methylation patterns or even point mutations. MLPA has been a reliable approach to identify copy number changes in the clinical and research settings and is widely used for the screening and investigation of copy number variations and genomic aberrations of interest in various diseases. In this chapter the analysis of the copy number changes in the RB1 gene locus by MLPA is described.

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Copy number profiling of tumor suppressor genes in head and neck cancer

Abstract: Our data confirm previous observations and suggest that losses of the MLH1 and CDKN2 genes and alterations of the TIMP3 gene play an important role in head and neck carcinogenesis. © 2016 Wiley Periodicals, Inc. Head Neck 39: 341-346, 2017.

Cited by 4 publications

References 59 publications

Expression Profiles of CDKN2A, MDM2, E2F2 and LTF Genes in Oral Squamous Cell Carcinoma

Expression Profiles of CDKN2A, MDM2, E2F2 and LTF Genes in Oral Squamous Cell Carcinoma

A Combined Prediction Model for Lymph Node Metastasis Based on a Molecular Panel and Clinicopathological Factors in Oral Squamous Cell Carcinoma

Detection of RB1 Gene Copy Number Variations Using a Multiplex Ligation-Dependent Probe Amplification Method

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