Asian Pacific Journal of Cancer Prevention

  • 제16권6호
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  • Pages.2177-2185
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  • 2015
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  • 1513-7368(pISSN)
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  • 2476-762X(eISSN)
아시아태평양암예방학회 (Asian Pacific Journal of Cancer Prevention)
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The Spectrum of Genetic Mutations in Breast Cancer

  • Sheikh, Asfandyar (Dow Medical College, Dow University of Health Sciences) ;
  • Hussain, Syed Ather (Dow Medical College, Dow University of Health Sciences) ;
  • Ghori, Quratulain (Jinnah Sindh Medical University) ;
  • Naeem, Nida (Liaquat National Hospital) ;
  • Fazil, Abul (Department of General Medicine, Kasturba Medical College, Manipal University) ;
  • Giri, Smith (University of Tennessee Health Science Center) ;
  • Sathian, Brijesh (Department of Community Medicine, Manipal College of Medical Sciences) ;
  • Mainali, Prajeena (Edward via College of Osteopathic Medicine) ;
  • Al Tamimi, Dalal M (Department of Pathology, College of Medicine, King Fahd Hospital of the University, University of Dammam)
  • 발행 : 2015.04.03
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초록

Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.

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