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Screening for Del 185 AG and 4627C>A BRCA1 Mutations in Breast Cancer Patients from Lahore, Pakistan
Aziz, Faiza,Fatima, Warda,Mahmood, Saqib,Khokher, Samina Asian Pacific Journal of Cancer Prevention 2016 Asian Pacific journal of cancer prevention Vol.17 No.4
Breast cancer contributes to approximately 23% of the cancer cases identified and 14% of cancer related deaths worldwide. Including a strong association between genetic and environmental factors, breast cancer is a complex and multi factorial disorder. Two high penetration breast cancer susceptibility genes (BRCA1 and BRCA2) have been identified, and germ line mutations in these are thought to account for between 5% and 10% of all breast cancer cases. The human BRCA1 gene, located on 17q, is involved in the regulation of cell proliferation by aiding in DNA repair, transcriptional responses to DNA damage and cell cycle check points. Mutations in this gene enhance cell proliferation and facilitate formation of tumors. Two mutations, the 185 deletion of AG and the 4627 substitution from C to A, are founder mutations in the BRCA1 gene for breast cancer in Asian populations. Allele specific PCR was performed to detect these selected mutations in 120 samples. No mutation of 4627 C to A was detected in the samples and only one of the patients had the 185 del AG mutation in the heterozygous condition. Our collected samples had lower consanguinity and family history indicating the greater involvement of environmental as compared to genetic factors.
Rubina Nasir,Faiza Aziz,Sikander M. Mirza,Nasir M. Mirza 한국원자력학회 2018 Nuclear Engineering and Technology Vol.50 No.3
Experimental measurements of the response of BF3 detector to a 3 Ci AmeBe neutron source for threedifferent reflecting materials, i.e., aluminum, wood, and Perspex of varying thicknesses have been carriedout. The varying contribution of wall effect to the response due to change in active volume of the detectorhas also been determined experimentally. Then, a Monte Carlo code has been developed for the calculationof the neutron response function of the BF3 detector using source biasing and importance sampling. This code simulates the BF3 detector response exposed to the neutron field in a three-dimensionalsource, detector, and reflecting medium configurations. The results of simulation have been comparedwith the corresponding experimental measurements and are found to be in good agreement. Theexperimental neutron albedo measurements for various values of Perspex thickness show saturatingbehavior, and results agree very well with the data obtained by Monte Carlo simulation.