The spectrum of genetic mutations in breast cancer

Asfandyar Sheikh, Syed Ather Hussain, Quratulain Ghori, Nida Naeem, Abul Fazil, Smith Giri, Brijesh Sathian, Prajeena Mainali, Dalal M. Al Tamimi

Research output: Contribution to journalShort surveypeer-review

56 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)2177-2185
Number of pages9
JournalAsian Pacific Journal of Cancer Prevention
Issue number6
Publication statusPublished - 01-01-2015
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Epidemiology
  • Oncology
  • Public Health, Environmental and Occupational Health
  • Cancer Research


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