Entity

Time filter

Source Type


Rashid M.U.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Rashid M.U.,German Cancer Research Center | Rashid M.U.,University of Health Sciences, Lahore | Shah M.A.,SKMCH and RC | And 4 more authors.
Pathology Research and Practice | Year: 2011

Metaplastic breast carcinoma (MBC) is a relatively rare subtype of breast cancer that encompasses a pathologically heterogeneous group of tumors. Pathogenic germ line mutations in the major breast cancer susceptibility genes BRCA1 and BRCA2 genes have been rarely found or described in MBC. We report the identification of the BRCA1 185delAG mutation in a 22-year-old Pakistani woman with triple-negative MBC that showed biphasic morphological features, including sarcomatous and malignant epithelial components. A comprehensive description of the clinical, histopathological, morphological, and immunohistochemical features of the tumor and the patient's treatment course is presented. © 2011 Elsevier GmbH. Source


Sultan F.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Aziz M.T.,ReSearch Pharmaceutical Services | Khokhar I.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Qadri H.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | And 4 more authors.
International Journal of Medical Informatics | Year: 2014

Objectives: To review our experience of development and implementation of an electronic hospital information system, its costs and return on investment as well as incorporation of some key quality standards. Methods: Cost and saving trends of the project were calculated using different tools including project expense, cost saving through cessation of printing radiology films and paper. Net present value with payback period was utilized to evaluate the efficiency of the health information systems. Qualitative improvements in different healthcare functions were also analyzed. Results: The total saving of the project was approximately US$ 5.1 million with net saving of US$ 3.5 million for the period from 2001 to 2011. The net present value of the project is US$3.2 million with a payback period of 3.4 years. Conclusions: Electronic hospital information systems and health records hold the potential to be useful tools for quality improvement and error reduction. Adoption of such systems, however, has been slow and erratic, worldwide. Utilizing the concept of net present value, development of such a system may be financially viable for some institutions. Instead of simply replacing paper, these systems may also be used to improve information management and improve quality of patient care. © 2014 Elsevier Ireland Ltd. Source


Rashid M.U.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Rashid M.U.,German Cancer Research Center | Muhammad N.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Faisal S.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | And 2 more authors.
BMC Cancer | Year: 2013

Background: Less than 20% of Pakistani women with early-onset or familial breast/ovarian cancer harbor germ line mutations in the high-penetrance genes BRCA1, BRCA2 and TP53. Thus, mutations in other genes confer genetic susceptibility to breast cancer, of which CHEK2 is a plausible candidate. CHEK2 encodes a checkpoint kinase, involved in response to DNA damage.Methods: In the present study we assessed the prevalence of CHEK2 germ line mutations in 145 BRCA1/2-negative early-onset and familial breast/ovarian cancer patients from Pakistan (Group 1). Mutation analysis of the complete CHEK2 coding region was performed using denaturing high-performance liquid chromatography analysis, followed by DNA sequencing of variant fragments.Results: Two potentially deleterious missense mutations, c.275C>G (p.P92R) and c.1216C>T, (p.R406C), were identified (1.4%). The c.275C>G mutation is novel and has not been described in other populations. It was detected in a 30-year-old breast cancer patient with a family history of breast and multiple other cancers. The c.1216C>T mutation was found in a 34-year-old ovarian cancer patient from a family with two breast cancer cases. Both mutations were not detected in 229 recently recruited BRCA1/2-negative high risk patients (Group 2).Conclusion: Our findings suggest that CHEK2 mutations may not contribute significantly to breast/ovarian cancer risk in Pakistani women. © 2013 Rashid et al.; licensee BioMed Central Ltd. Source


Rashid M.U.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Rashid M.U.,German Cancer Research Center | Muhammad N.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Faisal S.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | And 2 more authors.
Breast Cancer Research and Treatment | Year: 2014

RAD51C plays a key role in homologous recombination-mediated DNA repair and maintenance of genomic stability. Biallelic RAD51C mutations cause Fanconi anemia, and monoallelic mutations predispose women to breast and ovarian cancer. Genetic variability of RAD51C and its impact in Asian populations have been poorly studied. Here, we report the results of comprehensive mutational screening of the RAD51C gene in 348 BRCA1/2-negative breast and/or ovarian cancer patients from Pakistan. Mutation analysis of the complete RAD51C-coding region was performed using denaturing high-performance liquid chromatography analysis, followed by DNA sequencing of variant fragments. Three novel protein-truncating mutations, c.204T>A, c.225T>G, and c.701C>G, were identified. c.204T>A was found in one out of 22 (4.5 %) early-onset (&45 years of age) ovarian cancer patients and c.225T;gt&G in one out of 119 (0.8 %) patients from breast cancer only families. c.701C;gt&G was found in a 60-year-old control with no family history of breast/ovarian cancer. Furthermore, three novel in silico-predicted potentially functional mutations, a missense mutation, c.873T;gt&G, a variant in 5′UTR, c.1-34T;gt&G, and a recurrent intronic variant, c.965+21A;gt& G, were identified. The missense mutation was observed in a patient with bilateral breast cancer from a breast and ovarian cancer family (HBOC), the 5′UTR variant was noted in an early-onset breast cancer patient, and the intronic variant in one early-onset breast cancer patient and one ovarian cancer patient from a HBOC family. Five of the six mutations described were not detected in 400 healthy controls. These findings suggest that RAD51C plays a marginal role in breast and ovarian cancer predisposition in Pakistan. Reliable estimation of the clinical implications of carrying a deleterious RAD51C mutation will require identification of additional mutation-positive patients/families. © 2014 Springer Science+Business Media New York. Source


Rashid M.U.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | Rashid M.U.,University of Health Sciences, Lahore | Rashid M.U.,German Cancer Research Center | Muzaffar M.,Shaukat Khanum Memorial Cancer Hospital and Research Center and | And 7 more authors.
PLoS ONE | Year: 2015

Background Vitamin D is postulated to decrease the risk of breast cancer by inhibiting cell proliferation via the Vitamin D receptor (VDR). Two common single nucleotide polymorphisms (SNPs) in the VDR gene, rs1544410 (BsmI) and rs2228570 (FokI), are inconsistently associated with breast cancer risk in Caucasian populations, while data for Asians are scarce. Here, we investigated the possible contribution of these SNPs to breast cancer risk in Pakistani breast cancer patients and in controls participating in a hospital-based breast cancer casecontrol study (PAK-BCCC). Methods Genotyping of the BsmI and FokI SNPs was performed by PCR-based restriction fragment length polymorphism (RFLP) analysis of 463 genetically enriched female breast cancer cases with known BRCA1/2 status and in 1,012 controls from Pakistan. The association between SNP genotypes and breast cancer risk was investigated by logistic regression adjusted for potential breast cancer risk factors and stratified by BRCA1/2 status and family history. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported. Results The b allele of the BsmI was associated with an increased breast cancer risk (per b allele OR 1.28, 95% CI 1.09-1.49, P = 0.003). Subgroup analysis revealed that this effect was restricted to BRCA1/2 non-carriers (per b allele OR 1.33, 95% CI 1.11-1.59, P = 0.002) and was stronger in those who reported a positive family history of breast and/or ovarian cancer (per b allele OR 1.64, 95% CI 1.20-2.22, P = 0.002). No association with breast cancer risk was detected for the FokI SNP. Conclusions The BsmI polymorphism in the VDR gene may be associated with an increased breast cancer risk in Pakistani women negative for BRCA1/2 germline mutations. Copyright © 2015 Rashid et al. Source

Discover hidden collaborations