Summary
Breast cancer (BC) is one of the most frequently occurring cancer and cancer-related deaths in women. BC become a major public health challenge. In Egypt, BC is the most frequent cancer among Egyptian females. It represents about 38% of all reported cancer cases in Egyptian females.
LncRNAs can be genomically located between two protein coding genes (intergenic lncRNA), transcribed from a promoter of a protein-coding gene.
One of the lncRNA found in humans is H19, it is expressed exclusively from the maternal allele on chromosome 11p15.5 after 10 weeks gestation, H19 is highly expressed in the developing embryo. It promotes biological processes such as apoptosis, angiogenesis, inflammation and cell death.
Accumulating evidence has demonstrated that H19 lncRNA is abnormally expressed and promotes cancer-cell proliferation in many tumors, such as BC and hepatocellular, esophageal, and bladder cancers sug-gesting an oncogenic function.
SNPs are one of the most common types of genetic variations in the human genome. SNPs in genes that regulate DNA mismatch repair, cell cycle regulation, metabolism and immunity are associated with genetic susceptibility to cancer. SNPs have been confirmed to have profound effects on gene expression and function, and participate in carcinogenesis.
Summary
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Some original studies and previous meta-analyses reported the relationship between H19 rs217727 and cancer risk, but the results were inconsistent. In addition, several recently published studies provide the basis for updating data sets and more accurately evaluating the relationship between H19 rs217727 and cancer risk.
The aim of this study was to evaluate the efficacy of H19 lncRNA expression as potential molecular noninvasive tumor marker in diagnosis and prognosis of BC in Egyptian females, evaluate the rs217727 polymorphism as possible prognostic biomarker for BC and study the associations between H19 SNP (rs217727) and BC & its effect on the expression of H19 lncRNA.
Our study was performed on 100 breast cancer (BC) patients, 50 women with benign breast lesion and 50 cancer- free controls.
All patients were subjected full history taking, complete clinical examination, laboratory investigations, radiological assessment, diagnostic biopsy for histopathology and molecular study of the gene variations.
The data analysis of rs217727 lncRNA‐H19 revealed a significant increase in the frequency of the heterozygous variant CT genotype in BC patients compared with benign group and the controls (p |
