Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal, Balochistan, Pakistan Email : hameedbaloch77@yahoo.com
Abstract
Breast cancer is very common and the leading cause of cancer deaths among women globally. Hereditary cases account for 510% of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene. Our objective in the current study was to analyze mutations in related to breast cancer. A total of 271 individuals including breast cancer patients and normal subjects were enrolled and all 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) were affected with invasive ductal carcinoma (IDC), 52.1% were diagnosed with grade III tumors and 56.2% and 27.5% with advanced stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified, both novel and not reported elsewhere.
Baloch, A., Khosa, A., Bangulzai, N., Shuja, J., Naseeb, H., Jan, M., Marghazani, I., Kakar, M., Baloch, D., Cheema, A., & Ahmad, J. (2016). Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan. Asian Pacific Journal of Cancer Prevention, 17(7), 3623-3626.
MLA
Abdul Hameed Baloch; Ahmad Nawaz Khosa; Nasrullah Bangulzai; Jamila Shuja; Hafiz Khush Naseeb; Mohammad Jan; Illahi Bakhsh Marghazani; MasoodulHaq Kakar; Dost Mohammad Baloch; Abdul Majeed Cheema; Jamil Ahmad. "Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan". Asian Pacific Journal of Cancer Prevention, 17, 7, 2016, 3623-3626.
HARVARD
Baloch, A., Khosa, A., Bangulzai, N., Shuja, J., Naseeb, H., Jan, M., Marghazani, I., Kakar, M., Baloch, D., Cheema, A., Ahmad, J. (2016). 'Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan', Asian Pacific Journal of Cancer Prevention, 17(7), pp. 3623-3626.
VANCOUVER
Baloch, A., Khosa, A., Bangulzai, N., Shuja, J., Naseeb, H., Jan, M., Marghazani, I., Kakar, M., Baloch, D., Cheema, A., Ahmad, J. Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan. Asian Pacific Journal of Cancer Prevention, 2016; 17(7): 3623-3626.
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