Epidemiology, Major Risk Factors and Genetic Predisposition for Breast Cancer in the Pakistani Population

  • Shaukat, Uzma (Institute of Biomedical and Genetic Engineering Islamabad) ;
  • Ismail, Muhammad (Institute of Biomedical and Genetic Engineering Islamabad) ;
  • Mehmood, Nasir (University of Health Sciences Lahore)
  • Published : 2013.10.30


Occurrence of breast cancer is related to genetic as well as cultural, environmental and life-style factors. Variations in diversity of these factors among different ethnic groups and geographical areas emphasize the immense need for studies in all racial-ethnic populations. The incidence of breast cancer in Pakistan is highest in Asians after Jews in Israel and 2.5 times higher than that in neighboring countries like Iran and India, accounting for 34.6% of female cancers. The Pakistani population is deficient in information regarding breast cancer etiology and epidemiology, but efforts done so far had suggested consanguinity as a major risk factor for frequent mutations leading to breast cancer and has also shed light on genetic origins in different ethnic groups within Pakistan. World-wide research efforts on different ethnicities have enhanced our understanding of genetic predisposition to breast cancer but despite these discoveries, 75% of the familial risk of breast cancer remains unexplained, highlighting the fact that the majority of breast cancer susceptibility genes remain unidentified. For this purpose Pakistani population provides a strong genetic pool to elucidate the genetic etiology of breast cancer because of cousin marriages. In this review, we describe the known breast cancer predisposition factors found in the local Pakistani population and the epidemiological research work done to emphasize the importance of exploring factors/variants contributing to breast cance, in order to prevent, cure and decrease its incidence in our country.


Breast cancer;incidence;environmental and genetic factors;Pakistan


  1. Ahmed S, Thomas G, Ghoussaini M, et al (2009). Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet, 41, 585-90.
  2. Akram M, Siddiqui SA (2012). Breast cancer management: past, present and evolving. Indian J Cancer, 49, 277-82.
  3. Baig RM, Mahjabeen I, Sabir M, et al (2011). Genetic changes in the PTEN gene and their association with breast cancer in Pakistan. Asian Pac J Cancer Prev, 12, 2773-8.
  4. Bhurgri Y, Bhurgri A, Hassan SH, et al (2000). Cancer incidence in Karachi, Pakistan: First results from Karachi Cancer Registry. Int J Cancer, 85, 325-9.<325::AID-IJC5>3.0.CO;2-J
  5. Butt Z, Shahbaz U, Naseem T, et al (2009). Reproductive risk factors for female breast cancer: a case - control study. Annals, 15, 206-10
  6. Farea FMS, Zhenwu Z (2011). The most prevalent cancer of the women breast in the city of Taiz. Aca J Cancer Res, 4, 5-9.
  7. Farooq A, Naveed AK, Azeem Z, Ahmad T (2011). Breast and ovarian cancer risk due to prevalence of BRCA1 and BRCA2 variants in Pakistani population: a Pakistani database report. J Oncol, 2011, 1-8.
  8. Foulkes W, Brunet J, Wong N, Goffin J, Chappuis P (2002). Change in the penetrance of founder BRCA1/2 mutations? A retrospective cohort study. Am J Hum Genet, 71, 595-606.
  9. Jamal S, Mamoon N, Mushtaq S, Luqman M (2006). Carcinoma of the male breast: a study of 141 cases from Northern Pakistan. Asian Pac J Cancer Prev, 7, 119-21.
  10. Malik AF, Sandersi AJ, Jones AD, Manseli RE, Jiang WG (2009). Transcriptional and translational modulation f KAI1 expression in ductal carcinoma of the breast and the prognostic significance. Int J Mol Med, 23, 273-8.
  11. Khaliq S, Hameed A, Khaliq T, et al (2000). P53 mutations, polymorphisms, and haplotypes in Pakistani ethnic groups and breast cancer patients Genetic Testing. Genet Test, 4, 23-9.
  12. Khaliq T, Afghan S, Naqi A, Haider MHR (2001). P53 mutations in carcinoma breast - a clinicopathological study. J Pak Med Assoc, 51, 210-3.
  13. Liede A, Malik IA, Aziz Z, et al (2002). Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet, 71, 595-606.
  14. Malik AF (2010). Molecular genetic characterization of breast cancer in Pakistani population Higher education commission, Pakistan Research Repository.
  15. Malik FA, Ashraf S, Kayani MA, et al (2008). Contribution of BRCA1 germline mutation in patients with sporadic breast cancer. Int Semin Surg Oncol, 5, 21.
  16. Malik IA (2002). Clinico - pathological features of breast cancer in Pakistan. JPMA, 52, 1-10.
  17. Malik S, Hanif A, Khokher S, et al (2009). Association of genetic and non-genetic risk factors with specific BRCA mutation positive breast cancers in some Pakistani females. Pak J Physiol, 5, 51-7.
  18. Mamoon N, Sharif MA, Mushtaq S, Khadim MT, Jamal SJ (2009). Breast carcinoma over three decades in northern Pakistan. Pak Med Assoc, 59, 835-8.
  19. Nosheen M, Malik FA, Kayani MA (2011). Lack of influence of glutathione S-transferase gene deletions in sporadic breast cancer in Pakistan. Asian Pac J Cancer Prev, 12, 1749-52.
  20. Zeb A, Rasool A, Nasreen S (2004). Occupation and cancer incidence in district dir (NWFP), Pakistan. Asian Pac J Cancer Prev, 7, 483-4.
  21. Rashid MU, Zaidi A, Torres D, et al (2006). Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer, 119, 2832-9.
  22. Saria MS, Mirza MR, Habib H, Zubair M (2010). Breast cancer among pakistani women in referral Hospitals: an overview of risk factors. Ibrahim Med Coll J, 4, 1-3.
  23. Turnbull C, Rahman N (2008). Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet, 9, 321-45
  24. Zeb A, Rasool A, Nasreen S (2008). Cancer incidence in the districts of dir (North West Frontier Province), Pakistan: a preliminary study. J Chin Med Assoc, 71, 62-5.

Cited by

  1. Comparison between Early and Late Onset Breast Cancer in Pakistani Women Undergoing Breast Conservative Therapy: is There any Difference? vol.15, pp.13, 2014,
  2. Short-Hairpin RNA-Mediated MTA2 Silencing Inhibits Human Breast Cancer Cell Line MDA-MB231 Proliferation and Metastasis vol.15, pp.14, 2014,
  3. Epidemiological Patterns of Cancer Incidence in Southern China: Based on 6 Population-based Cancer Registries vol.15, pp.3, 2014,
  4. Female Breast Cancer Incidence and Mortality in Mexico, 2000-2010 vol.15, pp.3, 2014,
  5. Lack of any Association of the CTLA-4 +49 G/A Polymorphism with Breast Cancer Risk in a North Indian Population vol.15, pp.5, 2014,
  6. Clinical Presentation and Frequency of Risk Factors in Patients with Breast Carcinoma in Pakistan vol.16, pp.17, 2015,
  7. Epidemiology of breast cancer: retrospective study in the Central African Republic vol.16, pp.1, 2016,
  8. Downregulation of human intercellular adhesion molecule-1 attenuates the metastatic ability in human breast cancer cell lines vol.35, pp.3, 2016,
  9. Behavioral risk factors of breast cancer in Bangui of Central African Republic: A retrospective case-control study vol.12, pp.2, 2017,
  10. Breast cancer protection by genomic imprinting in close kin families vol.18, pp.1, 2017,
  11. Awareness and current knowledge of breast cancer vol.50, pp.1, 2017,
  12. Alternative Splicing in Breast Cancer and the Potential Development of Therapeutic Tools vol.8, pp.10, 2017,
  13. The importance of Evolutionary Medicine in developing countries vol.2018, pp.1, 2018,
  14. Breast cancer risk associated with BRCA1/2 variants in the Pakistani population pp.1880-4233, 2018,
  15. 9I (rs757343) gene polymorphism with risk of premenopausal breast cancer vol.46, pp.5, 2018,