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; Khosa, Ahmad Nawaz; Bangulzai, Nasrullah; Shuja, Jamila; Naseeb, Hafiz Khush; Jan, Mohammad; Marghazani, Illahi Bakhsh; Kakar, Masood-ul-Haq; Baloch, Dost Mohammad; Cheema, Abdul Majeed; Ahmad, Jamil

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저자정보: 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 Tech)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제17권 제7호

발행연도: 2016.1

수록면: 3,623 - 3,626 (4page)

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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.

#Nonsense #breast cancer #CHEK2 #Balochistan #novel variants

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Baloch, Abdul Hameed

소속기관 Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Scien