M Saleem Wani

Sher-i-Kashmir Institute of Medical Sciences, Suryanagar, Kashmir, India

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Publications (3)7.24 Total impact

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    ABSTRACT: Introduction: The primary aim of this study was to evaluate the incidence of von Hippel-Lindau (VHL) gene mutations among a group of Kashmiri patients diagnosed with renal cell tumors. Correlation of these mutations was explored with clinical pathological status of the illness. Methods: PCR-SCCP and DNA sequencing evaluated the DNA samples of both the tumor and adjacent normal tissue for the occurrence of VHL gene mutations. In addition, blood samples were used from all the cases to rule out any germ-line mutation. Results: Mutations of the VHL gene identified in renal-cell cancer (RCC) patients were 52.5% (21 of 40), including 9 missense, 10 frame shift, and 2 non-sense mutations. Of the mutations, 52.38% were detected in exon 1, 38.1% in exon 2, and 9.52% in exon 3. Nineteen out of 23 (82.6%) cases of the clear-cell type and 2 out of 2 (100%) of angiomyolipomas of RCC were positive for VHL gene mutation. No correlation was found between tumor grade and/or stage and the presence of VHL mutation. Conclusions: In conclusion, sporadic RCC shows mutations in the VHL gene, which mainly appear in the clear-cell subtype in our patients. Thus alteration in the VHL gene has been implicated in the pathogenesis of renal-cell sporadic cancer of the patients in our population.
    04/2013; 06(02). DOI:10.3834/uij.1944-5784.2013.04.02
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    ABSTRACT: OBJECTIVE: Specific acquired HRAS mutations have been found to predominate in bladder cancer, and HRAS T81C polymorphism has been determined to contribute the risk of various cancers, including bladder cancer. MATERIALS AND METHODS: We screened the exon 1and 2 of HRAS and frequently detected polymorphism at nucleotide 81T to C (exon 1). A case-control study was conducted using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to test the genotype distribution of 140 bladder cancer patients in comparison with 160 cancer-free controls from a Kashmiri population. RESULTS: In HRAS T81C SNP, frequencies of TT, TC, and CC genotypes among controls were 84.4%, 15.6%, and 0.0%, while in cases allele frequencies were 64.3%, 30%, and 5.7%, respectively. A significant differences was observed between the control and cases with odds ratio (OR) = 3.0 and 95% confidence interval (CI) = 1.74-5.20 (P = 0.000). Interestingly, combined TC and CC genotype abundantly presented in high grade (OR = 5.4 and 95% CI = 2.8-10.2; P < 0.00) and in advanced tumors (OR = 3.3, 95% CI = 1.71-6.30; P < 0.05). A significant association of the variant allele (TC+CC) was found with male subjects (≥50) and ever smokers (P = 0.001). CONCLUSION: It is evident from our study that HRAS T81C SNP moderately increases bladder cancer risk, and rare allele is a predictive marker of advanced bladder tumors.
    Urologic Oncology 04/2011; 31(4). DOI:10.1016/j.urolonc.2011.03.004 · 2.77 Impact Factor
  • The Journal of Urology 04/2011; 185(4). DOI:10.1016/j.juro.2011.02.1182 · 4.47 Impact Factor