Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified 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 Uthal) Khosa, Ahmad Nawaz (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal) Bangulzai, Nasrullah (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal) 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 Uthal) Marghazani, Illahi Bakhsh (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal) Kakar, Masood-ul-Haq (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal) Baloch, Dost Mohammad (Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal) Cheema, Abdul Majeed (Institute of Molecular Biology and Biotechnology, The University of Lahore) Ahmad, Jamil (Department of Biotechnology,)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제17권 제3호

발행연도: 2016.1

수록면: 1,089 - 1,092 (4page)

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Breast cancer is the most commonly occurring and leading cause of cancer deaths among women globally. Hereditary cases account 5-10% of all the cases and CHEK2 is considered as a moderate penetrance breast cancer risk gene. CHEK2 plays a crucial role in response to DNA damage to promote cell cycle arrest and repair DNA damage or induce apoptosis. Our objective in the current study was to analyze mutations in the CHEK2 gene related to breast cancer in Balochistan. A total of 271 individuals including breast cancer patients and normal subjects were enrolled. All 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) had invasive ductal carcinomas (IDCs), 52.1% were diagnosed with tumor grade III and 56.1% and 27.5% were diagnosed with advance 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 in the current study. Both the variants identified were novel and have not been reported elsewhere.

#Breast cancer #CHEK2 gene #novel nonsense variants #Balochistan

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Baloch, Abdul Hameed

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