Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene Polymorphism rs1989839 is Associated with Risk and Metastatic Potential of Osteosarcoma in Young Chinese Individuals: A Multi-Center, Case-Control Study

Xu, Hongwei; Zhan, Wang; Chen, Zhiyuan

doi:10.12659/msm.901994

Cited by 6 publications

(2 citation statements)

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“…In spite of numerous validated studies about the role of RASSF1 and SLC5A8 promoter methylation in the molecular pathogenesis of tumor, there are only few studies investigating their methylation status in circulating free DNA (Stephen et al, 2015;Xing, 2013). RASSF1 (Ras association domain family member 1) is a proteincoding gene associated with the pathogenesis of different types of cancers (Amato et al, 2016;Niu, Yang, Yang, & Huang, 2017;Pabalan et al, 2017;Tommasi et al, 2005;Vos, Ellis, Bell, Birrer, & Clark, 2000;Xu, Zhan, & Chen, 2016 F I G U R E 5 Receiver operating characteristic (ROC) curves for DNA methylation markers (as ranked by p-value) using the current collection of circulating plasma circulating cell-free DNA (cfDNA) and matching tumor samples Mohammadi-asl et al, 2011;Shao et al, 2017;Wen, Wang, & Zhong, 2018). An investigation on the methylation status of 14 different tumor suppressor genes in plasma cell-free DNA highlighted the role of RASSF1 hypermethylation as a biomarker for six types of cancers (lung, colon, pancreas, breast, stomach, prostate;Saeki et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF^V600E mutation as biomarkers for papillary thyroid carcinoma

Khatami

Larijani

Heshmat

et al. 2020

Journal Cellular Physiology

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Circulating cell-free DNA (cfDNA) has been considered as a diagnostic source to track genetic and epigenetic alterations in cancer. We aimed to study mutation in addition to the methylation status in the promoter regions of RASSF1 and SLC5A8 genes in tissues and circulating free DNA samples of patients affected with papillary thyroid carcinoma (PTC) and thyroid nodules as controls. BRAF V600E mutation was studied by ARMS-scorpion real-time polymerase chain reaction method in 57 PTC and 45 thyroid nodule cases. Methylation status of RASSF1 and SLC5A8 promoter regions was analyzed by methylation-specific high-resolution melting curve analysis. BRAF V600E mutation was found in 39 (68.4%) out of 57 PTC tissue samples, while in 33 (49.1%) cases of cfDNA, this mutation was detected. The frequency of BRAF V600E mutation in cfDNA was significantly different between metastatic and nonmetastatic PTC cases (22 of 33 PTC cases vs. 5 of 34 thyroid nodule samples).Methylation levels of three promoter regions of SLC5A8 and proximal promoter region of RASSF1 was significantly different between PTC and thyroid nodule cases in both cfDNA and tissue DNA. In addition, the methylation status of these two genes in tissue DNA was reflected in methylation status observed in cfDNA. This study confirmed that BRAF V600E mutation is better for discrimination between papillary thyroid carcinoma and thyroid nodules. On the other hand, hypermethylation in the more proximal promoter regions to RASSF1 and SLC5A8 genes showed higher sensitivity and more acceptable specificity for this discrimination.

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Section: Discussionmentioning

confidence: 99%

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF^V600E mutation as biomarkers for papillary thyroid carcinoma

Khatami

Larijani

Heshmat

et al. 2020

Journal Cellular Physiology

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“…The SNPs rs1143630, rs1143633, and rs1143643 of interleukin‐1 beta ( IL ‐ 1B ) gene showed a relationship with LNM of papillary thyroid carcinoma (PTC) 30 . SNP rs1989839 C/T genotype of Ras‐association domain family 1 isoform A ( RASSF1A ) gene increases the risk of lung metastasis of osteosarcoma 31 . Transforming growth factor‐β1 ( TGFB1 ) gene promoter −509C/T polymorphism affected the metastasis of CRC 32 .…”

Section: Discussionmentioning

confidence: 99%

Dihydropyrimidine dehydrogenase (DPYD) gene c.1627A>G A/G and G/G genotypes are risk factors for lymph node metastasis and distant metastasis of colorectal cancer

Zeng

Huang

et al. 2021

Clinical Laboratory Analysis

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Background Dihydropyrimidine dehydrogenase (DPD) acts as the key enzyme catabolizing pyrimidines, and may affect the tumor progression. DPYD gene mutations affect DPD activity. The relationship between DPYD IVS14+1G>A, c.1627A>G, c.85T>C and lymph node metastasis (LNM) and distant metastasis (DM) of colorectal cancer (CRC) was investigated. Methods A total of 537 CRC patients were enrolled in this study. DPYD polymorphisms were analyzed by polymerase chain reaction (PCR)‐Sanger sequencing. The relationship between DPYD genotypes and clinical features of patients, metastasis of CRC was analyzed. Results About DPYD c.1627A>G, A/A (57.7%) was the most common genotype, followed by A/G (35.6%), G/G (6.7%) genotypes. In c.85T>C, T/T, T/C, and C/C genotypes are accounted for 83.6%, 16.0%, and 0.4%, respectively. Logistic regression analysis revealed that DPYD c.1627A>G A/G and G/G genotypes in the dominant model (A/G + G/G vs. A/A) were significant risk factors for the LNM (p = 0.029, OR 1.506, 95% CI = 1.048–2.165) and DM (p = 0.039, OR 1.588, 95% CI = 1.041–2.423) of CRC. In addition, DPYD c.1627A>G polymorphism was more common in patients with abnormal serum carcinoembryonic antigen (CEA) (>5 ng/ml) (p = 0.003) or carbohydrate antigen 24–2 (CA24‐2) (>20 U/ml) level (p = 0.015). Conclusions The results suggested that DPYD c.1627A>G A/G, G/G genotypes are associated with increased risk of LNM and DM of CRC.

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Polymorphisms of the Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene are Associated with Ovarian Cancer, and with the Prognostic Factors of Grade and Stage, in Women in Southern China

Zhang

et al. 2018

Med Sci Monit

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BackgroundThe aim of this study was to determine whether polymorphisms of the Ras-association domain family 1 isoform A (RASSF1A) gene were associated with ovarian cancer and with tumor grade and stage, which affect the prognosis of ovarian cancer, in women in Southern China.Material/MethodsWomen from Southern China with histologically confirmed, graded and staged ovarian cancer (n=1,375), and cancer-free controls (n=1,227), provided samples of peripheral blood. DNA was extracted from the blood samples, and five tagging single nucleotide polymorphisms (SNPs) (rs4688728G>T, rs72932987C>T, rs1989839C>T, rs2073497A>C, and rs2236947A>C) were evaluated using an online assay-by-design platform. Polymerase chain reaction (PCR) DNA amplification was performed and computational haplotyping analysis of genetic associations between the five tagging SNPs was performed to identify frequent haplotypes in women with ovarian cancer, and the associations with tumor grade and stage.ResultsIn women in Southern China, the CT genotype of rs1989839 was associated with the patients with ovarian cancer (P=0.001), and was significantly correlated with tumor grade and stage (P=0.008). One of the remaining four SNPs studied, rs2073497A>C showed an association with the prognostic factors of grade and stage, but this association did not reach statistical significance.ConclusionsPolymorphisms of the RASSF1A gene, most significantly the CT genotype of rs1989839, might play a role in the development and prognosis of ovarian cancer in women in Southern China. To our knowledge, this is the first study to demonstrate an association between polymorphisms in the RASSF1A gene in ovarian cancer.

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Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene Polymorphism rs1989839 is Associated with Risk and Metastatic Potential of Osteosarcoma in Young Chinese Individuals: A Multi-Center, Case-Control Study

Cited by 6 publications

References 20 publications

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF^V600E mutation as biomarkers for papillary thyroid carcinoma

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF^V600E mutation as biomarkers for papillary thyroid carcinoma

Dihydropyrimidine dehydrogenase (DPYD) gene c.1627A>G A/G and G/G genotypes are risk factors for lymph node metastasis and distant metastasis of colorectal cancer

Polymorphisms of the Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene are Associated with Ovarian Cancer, and with the Prognostic Factors of Grade and Stage, in Women in Southern China

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Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene Polymorphism rs1989839 is Associated with Risk and Metastatic Potential of Osteosarcoma in Young Chinese Individuals: A Multi-Center, Case-Control Study

Cited by 6 publications

References 20 publications

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAFV600E mutation as biomarkers for papillary thyroid carcinoma

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAFV600E mutation as biomarkers for papillary thyroid carcinoma

Dihydropyrimidine dehydrogenase (DPYD) gene c.1627A>G A/G and G/G genotypes are risk factors for lymph node metastasis and distant metastasis of colorectal cancer

Polymorphisms of the Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene are Associated with Ovarian Cancer, and with the Prognostic Factors of Grade and Stage, in Women in Southern China

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Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF^V600E mutation as biomarkers for papillary thyroid carcinoma

Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF^V600E mutation as biomarkers for papillary thyroid carcinoma