title: 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.
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.
authors: Faculty of Veterinary and Animal Sciences, Lasbela University of Agriculture, Water and Marine Sciences Uthal, Balochistan, Pakistan Email : hameedbaloch77@yahoo.com.
authors: Abdul Hameed
authors: AH
authors: Baloch
authors: Ahmad Nawaz
authors: AN
authors: Khosa
authors: Nasrullah
authors: N
authors: Bangulzai
authors: Jamila
authors: J
authors: Shuja
authors: Hafiz Khush
authors: HK
authors: Naseeb
authors: Mohammad
authors: M
authors: Jan
authors: Illahi Bakhsh
authors: IB
authors: Marghazani
authors: MasoodulHaq
authors: M
authors: Kakar
authors: Dost Mohammad
authors: DM
authors: Baloch
authors: Abdul Majeed
authors: AM
authors: Cheema
authors: Jamil
authors: J
authors: Ahmad
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010154:Pakistan
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human