Abstract
The aims of this study were to detect CCND1 , C-MYC , and FGFR1 amplification using qPCR, confirmation with FISH, and to further assess their clinicopathological relevance. Thirty-five breast tumor samples were analyzed for amplification of the selected genes using modified SYBR Green qPCR. The accuracy of the qPCR was assessed by FISH as a gold-standard method. CCND1 , C-MYC , and FGFR1 amplifications were observed in 34.28%, 28.57%, and 17.14% of the 35 samples, respectively. qPCR results were significantly confirmed by FISH and qPCR and FISH showed excellent correlation (P = 0.000). CCND1 amplification with tumor stage (P = 0.044), positive metastatic status (P = 0.042), positive family history (P = 0.042), and C-MYC status (P = 0.005); C-MYC amplification with tumor size (P = 0.021), tumor grade (P = 0.018), tumor stage (P = 0.032), and FGFR1 status (P < 0.000); and FGFR1 amplification with tumor size (P = 0.041) and positive ER status (P = 0.042) were statistically associated. Our findings revealed that the applied qPCR approach could precisely quantify the relative gene copy number. More studies with a larger sample size are suggested to confirm the clinicopathological value of CCND1 , C-MYC , and FGFR1 amplification.
Highlights
Cancer originates from the interaction of the environment and accumulative genetic changes such as mutations, copy number variations (CNVs), and epigenetic alterations
CCND1, C-MYC, and fibroblast growth factor receptor 1 gene (FGFR1) amplifications were observed in 34.28%, 28.57%, and 17.14% of the 35 samples, respectively. qPCR results were significantly confirmed by Fluorescence in situ hybridization (FISH) and qPCR and FISH showed excellent correlation (P = 0.000)
Our findings revealed that the applied qPCR approach could precisely quantify the relative gene copy number
Summary
Cancer originates from the interaction of the environment and accumulative genetic changes such as mutations, copy number variations (CNVs), and epigenetic alterations. Gene amplification (GA) is one type of CNV known as the increase of a defined cytogenetic region of chromosomes called amplicons. CNVs are a common event in solid tumors and GA is the main mechanism that leads to the activation of protooncogenes [1]. Chromosomal positions at 1q, 8p12, 8q24, 11q13, 12p13, 16p13, 7q12-21, and 20q13, and several target oncogenes including ERBB2, MYCL1, MYCN, REL, EGFR, FGFR1, CCND1, TOP2A, and C-MYC, have been the most prominent and frequent amplicons identified in breast cancer (BC). There are many common amplification-activated human oncogenes identified in different cancers [2,3,4]. CCND1 amplification has been identified in a variety of tumors, among which 10%–15% of human primary breast cancers have shown
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