Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan

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• 作者：Muhammad U Rashid (35) (36)
  Noor Muhammad (35)
  Saima Faisal (35)
  Asim Amin (37)
  Ute Hamann (36)
  
• 关键词：CHEK2 ; Germ line mutations ; Early ; onset and familial breast cancer ; Pakistan
• 刊名：BMC Cancer
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：13
• 期：1
• 全文大小：187KB
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  52. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2407/13/312/prepub
  
• 作者单位：Muhammad U Rashid (35) (36)
  Noor Muhammad (35)
  Saima Faisal (35)
  Asim Amin (37)
  Ute Hamann (36)
  
  35. Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan
  36. Deutsches Krebsforschungszentrum (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany
  37. Levine Cancer Institute, Carolinas Medical Center, Charlotte, USA
  
• ISSN：1471-2407

文摘

Background Less than 20% of Pakistani women with early-onset or familial breast/ovarian cancer harbor germ line mutations in the high-penetrance genes BRCA1, BRCA2 and TP53. Thus, mutations in other genes confer genetic susceptibility to breast cancer, of which CHEK2 is a plausible candidate. CHEK2 encodes a checkpoint kinase, involved in response to DNA damage. Methods In the present study we assessed the prevalence of CHEK2 germ line mutations in 145 BRCA1/2-negative early-onset and familial breast/ovarian cancer patients from Pakistan (Group 1). Mutation analysis of the complete CHEK2 coding region was performed using denaturing high-performance liquid chromatography analysis, followed by DNA sequencing of variant fragments. Results Two potentially deleterious missense mutations, c.275C>G (p.P92R) and c.1216C>T, (p.R406C), were identified (1.4%). The c.275C>G mutation is novel and has not been described in other populations. It was detected in a 30-year-old breast cancer patient with a family history of breast and multiple other cancers. The c.1216C>T mutation was found in a 34-year-old ovarian cancer patient from a family with two breast cancer cases. Both mutations were not detected in 229 recently recruited BRCA1/2-negative high risk patients (Group 2). Conclusion Our findings suggest that CHEK2 mutations may not contribute significantly to breast/ovarian cancer risk in Pakistani women.