The potential of identification of a malignancy‐associated biomarker in breast cancer diagnosis and research: hTERT gene DNA methylation

Masood, Shahla; El-Gabry, Ehab A.; Zhang, Chuhua; Wang, Zhiqianq

doi:10.1002/dc.23505

Cited by 6 publications

(5 citation statements)

References 21 publications

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“…The analyses revealed hTERT hypermethylation in tumors and surrounding tissues of all patients. This is very similar to the results reported by Masood et al, 19 who found that 94% of breast carcinomas displayed hypermethylation levels at least 2-fold higher than those measured in normal breast tissue. In contrast, in our study, only five of the fifteen patients presented hTERT methylation in their cfDNA.…”

Section: Discussionsupporting

confidence: 92%

hTERT gene methylation in circulating DNA, tumor, and surrounding tissue in breast cancer: a prospective study

Queiroz,

Silva,

Souza

et al. 2024

Sao Paulo Med. J.

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BACKGROUND: The human telomerase reverse transcriptase (hTERT) enzyme, encoded by the hTERT gene, synthesizes protective telomeric sequences on chromosomes and plays a fundamental role in cancer formation. Methylation of the hTERT gene has an upregulatory effect, increasing hTERT enzyme synthesis and allowing continuous tumor cell division. OBJECTIVE: In a group of patients with breast cancer, we aimed to analyze the methylation status of hTERT in the tumor, surrounding tissue, and circulating free deoxyribonucleic acid (cfDNA) of blood collected on the day of mastectomy and then approximately one year later. DESIGN AND SETTING: A prospective study was conducted at a university hospital in Rio de Janeiro, Brazil. METHODS: Samples were collected from 15 women with breast cancer on the day of mastectomy and approximately one year postoperatively. cfDNA was analyzed by sodium bisulfite conversion, followed by polymerase chain reaction, electrophoresis, and silver nitrate staining. RESULTS: Methylation of hTERT was detected in the tumors and surrounding tissues of all 15 patients. Five patients displayed hTERT methylation in the cfDNA from the blood of the first collection. Of the ten patients who returned for the second collection, three showed methylation. Two patients with methylation in the first collection did not display methylation in the second collection. One patient with no methylation in the first collection displayed methylation in the second collection, and one patient had a diminished level of methylation in the second collection. CONCLUSION: Only one-third of patients displayed methylation in their cfDNA, which may be related to the success of chemotherapy.

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Section: Discussionsupporting

confidence: 92%

hTERT gene methylation in circulating DNA, tumor, and surrounding tissue in breast cancer: a prospective study

Queiroz,

Silva,

Souza

et al. 2024

Sao Paulo Med. J.

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“…The efficacy of contrast-enhanced MRI in the diagnosis of breast cancer has been previously proven ( 29 ). In addition, diagnosis of breast cancer using malignancy-associated biomarkers has been widely accepted ( 30 ). The present study analyzed the efficacy of the combination of MRI and detection of gene expression in diagnosing patients with breast cancer in the early stage.…”

Section: Discussionmentioning

confidence: 99%

Combined diagnosis of breast cancer in the early stage by MRI and detection of gene expression

Yang

Jing

2018

Exp Ther Med

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Breast cancer is one of the most common cancer types in humans. Magnetic resonance imaging (MRI) is an efficient method for the detection of human breast cancer. However, the efficacy of MRI in detecting breast cancer in the early stage requires to be improved. The present study investigated the diagnostic efficacy of a combination of MRI and detection of gene expression in patients with breast cancer in the early stage. The gene expression levels of Ki-67, BCL11A, FOXC1, HOXD13, PCDHGB7 and her-2 were used as an auxiliary diagnostic index for patients with breast cancer in the early stage. Higher expression levels of TPA and C2erbB22 were observed in tumor tissue obtained from diagnostic biopsy and determined by immunohistochemistry, which indicated a higher risk of breast cancer in a total of 84 participants. Diagnostic data revealed that combination MRI and detection of gene expression had a significantly higher diagnostic rate (66/84) in diagnosing breast cancer in an early stage compared with either MRI (78/360) or detection of gene expression (72/84; P<0.01). It was indicated that the combination of MRI and detection of gene expression had a higher diagnostic rate (94.5%) than either MRI (81.4%) or detection of gene expression (75.5%). Histological analysis confirmed the diagnosis determined by MRI and detection of gene expression. These results suggest that the combination of MRI and detection of gene expression may be a potential diagnostic method for assessing patients with early-stage breast cancer.

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“…In the same time, an optimal combination of genes, which methylation could provide important clinical data, has not been defined yet. The results of our study of methylation in small breast cancer tumors can be useful for cancer identification in small samples obtained by needle biopsy, where cancer is sometimes missed [8]. An important aspect of the study of methylation in small tumors is selection of potential markers for effective early diagnosis of breast cancer by detection of circulating cancer DNA in plasma [9].…”

Section: Discussionmentioning

confidence: 99%

Methylation Profile of Small Breast Cancer Tumors

Krasnyi¹,

Sadekova²,

Kometova³

et al. 2022

Preprint

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The DNA methylation profile of breast cancer differs from that in healthy tissue and can be used as a diagnostic and prognostic biomarker. Aim of the study: to compare gene methylation in small malignant breast tumors less than 2 cm and in healthy tissue and fibroadenoma. Methylation of the following 15 genes was studied: MAST1, PRDM14, ZNF177, DNM2, SSH1, AP2M1, CACNA1E, CPEB4, DLGAP2, CCDC181, GCM2, ITPRIPL1, POM121L2, KCNQ1, TIMP3. Methods: analysis was made by our modified MS-HRM method followed confirmation of the results by pyrosequencing. The genes were selected from publications that studied DNA methylation in breast cancer with high genome coverage. The study group included 48 samples of breast cancer, the control group included 24 samples of fibroadenoma and 24 samples of healthy tissue. Results: significant differences were found in methylation of 8 genes: CCDC181, GSM2, ITPRIPL1, ZNF177, CACNA1E, DLGAP2, TIMP3 (all р<0.001), and PRDM14 (р=0.002). The most accurate diagnostic value, based on logistic regression, was shown with the compound of two genes – CCDC181 and ZNF177 (AUC=0.99) in pyrosequencing analysis. Conclusion: small breast cancer tumors have a specific DNA methylation profile that distinguishes them from healthy tissue and benign proliferative lesions.

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The potential of identification of a malignancy‐associated biomarker in breast cancer diagnosis and research: hTERT gene DNA methylation

Cited by 6 publications

References 21 publications

hTERT gene methylation in circulating DNA, tumor, and surrounding tissue in breast cancer: a prospective study

hTERT gene methylation in circulating DNA, tumor, and surrounding tissue in breast cancer: a prospective study

Combined diagnosis of breast cancer in the early stage by MRI and detection of gene expression

Methylation Profile of Small Breast Cancer Tumors

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