Hereditary Genes and SNPs Associated with Breast Cancer

  • Mahdi, Kooshyar Mohammad (Department of Hematology-Oncology, Mashhad University of Medical Sciences) ;
  • Nassiri, Mohammad Reza (Department of Animal Science, Ferdowsi University of Mashhad) ;
  • Nasiri, Khadijeh (Department of Animal Science, Ferdowsi University of Mashhad)
  • Published : 2013.06.30


Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.


Breast cancer;hereditary genes;SNPs


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