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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

  • Baloch, Abdul Hameed (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Khosa, Ahmad Nawaz (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Bangulzai, Nasrullah (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Shuja, Jamila (Center for Nuclear Medicine and Radiotherapy (CENAR)) ;
  • Naseeb, Hafiz Khush (Center for Nuclear Medicine and Radiotherapy (CENAR)) ;
  • Jan, Mohammad (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Marghazani, Illahi Bakhsh (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Kakar, Masood-ul-Haq (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Baloch, Dost Mohammad (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences) ;
  • Cheema, Abdul Majeed (Institute of Molecular Biology and Biotechnology, the University of Lahore) ;
  • Ahmad, Jamil (Department of Biotechnology, Balochistan University of Information Technology, Engineering and Management Sciences)
  • Published : 2016.07.01

Abstract

Breast cancer is very common and the leading cause of cancer deaths among women globally. Hereditary cases account for 5-10% 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.

Keywords

Nonsense;breast cancer;CHEK2;Balochistan;novel variants

Acknowledgement

Supported by : International Agency for Research on Cancer (IARC)

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