It is one of the major research emphases to diagnose cancer earlier through molecular diagnostics methodologies using single novel signature mutation responsible for the disease outbreak or combination of SNPs or specific haplotype might be helpful for its diagnosis. Disease associated mutations may serve as tumor markers fora particular type of neoplasm.
Molecular diagnostic biomarkers are getting much attention now in the field of oncology, but still there are few studies regarding the authentication and usage of these markers as screening tools (7). Mammary tumor is a significant health concern in humans and small animals, so especial emphasis was given to ascertain cancer associatedsequence number variant (SNVs) and gene expression profilingof Hspb1 and Tp53 genes in this neoplasm (5, 6). mammary adenocarcinoma in the cat arethe best model forstudying human cancer due tothe resemblance in thecell morphology, histopathology, risk factors and prognosis (3, 4). Malignant tumors are equally lethal in animals as they are in humans and several animal cancers e.g. Eighty percentofthe total cases are malignant while 10-20% appeared as benign,sooner or later turn into malignant (2). The word “cancer” is so fearsome and attention seeking for victims, practitioners and guardiansregardless the type of species afflicted.Mammary adenocarcinoma is the third most common cancer inthe cats (1). Conclusions: Tumor specific mutations and ectopic expression of Hspb1 and Tp53 genes might be helpful in the diagnosis of the mammary lesions and endorse their involvement in cat mammary neoplasm. Sixty percentof cancers showed up-regulated trend of Tp53 gene. Introns 3, 5, 7 and 9 harbor 3, 4, 2 and 7 altered loci respectively. The locus c.1050G>G/A in exon 9 is a heterozygous (G/A) in 3 samples and homozygous (G) in 2 other tumours. While exons 3, 4 and 7 of Tp53 harbor asingle variationat c.105A>A/G, c.465T>T/C and c.859G>T respectively. Overall up-regulationof Hspb1 gene was observed. Intron 2 has two alterations at 1490C>C/T and GTCT4del at 1514. Exon 3 has 1 transversion at c.773A>A/T, 3´UTR of this exon harbor two point mutationsat 1868A>T and 2193C>T loci. The 5´UTR region of the exon1 bearsix mutation including 3 transitions, 2 transversion and one heterozygous synonymous transversion in two samples at locus c.34C>C/A. Results: Exon 1 and 3 revealed as hotspots in Hspb1 gene. DNA and RNA were extracted from these tissues to analyze the Hspb1 and Tp53 DNA variants and ectopic expression of their mRNA within cancerous and normal tissues. Materials and Methods: Tumorous tissues and peripheral blood from mammary adenocarcinoma affected Siamese cats were collected from the Pet center-UVAS. Objectives: Eight tumors of Siamese cats were analyzed to ascertain germ-line and tissue-specific somatic DNA variationsof Hspb1 and Tp53 genes alongwith the ectopic differential expressionin tumorous and normal tissueswere also analyzed. It will also add informationin comparative cancer genetics and genomics. So, Hspb1 and Tp53 gene characterization and their mRNA expression might be helpful in diagnosis andprognosis ofcat mammary adenocarcinoma. Background: Molecular marker based cancer diagnosis gaining more attention in the current genomics era.
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