- Volume 17 Issue 4
DOI QR Code
A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients
- Bhatta, Bibek (Department of Clinical Microbiology, Nobel College) ;
- Thapa, Roshina (Department of Clinical Microbiology, Nobel College) ;
- Shahi, Sanjay (Department of Clinical Microbiology, Nobel College) ;
- Bhatta, Yogesh (Mahakali Zonal Hospital) ;
- Pandeya, Dipendra Raj (Department of Clinical Biochemistry, Nepalese Army Institute of Health Science, College of Medicine) ;
- Poudel, Bal Hari (Central Department of Biotechnology, Tribhuvan University)
- Published : 2016.06.01
Background: Breast cancer is the second most common malignancy among Nepalese women, accounting for 60% of the total cancer cases in females. Women diagnosed with germline mutations in BRCA1 like 185delAG, 1294del40 develop breast and/or ovarian cancer with a lifelong likelihood of up to 85% whereas presence of a mutation increases the risk for mutations to occur in other genes. The major objective of this study was to find the prevalence of these mutations in Nepalese cancer patients. Materials and Methods: This prospective study was carried out at two cancer hospitals in the Kathmandu valley over a period of 11 months. Irrespective of age group and stage of canceran appropriate amount of blood was withdrawn from 50 breast cancer patients and 20 controls. DNA was extracted manually and subjected to PCR using primers for 185delAG and 1294del40 mutations. PCR products were then digested with restriction enzyme (DdeII) followed by electrophoresis. Results: Prevalence of 185delAG in reference breast cancer patients was found to be 4/50 (8%) but no 1294del40 was apparent. Conclusions: Several mutations occurring in different exons of BRCA1 as well as mutations in other genes like BRCA2, for example, should also be taken in account.
- Ahn SH, Hwang UK, Kwak BS, et al (2004). Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Korean Med Sci, 19, 269-74. https://doi.org/10.3346/jkms.2004.19.2.269
- Belogianni I, Apessos A, Mihalatos M, et al (2004). Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. BMC Cancer, 4, 61. https://doi.org/10.1186/1471-2407-4-61
- Capalbo C, Ricevuto E, Vestri A, et al (2006). BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. Ann Oncol, 17, 34-40.
- Chakraborty A, Banerjee D, Basak J, et al (2014). Absence of 185delAG and 6174delT mutations among breast cancer patients of eastern India. Asian Pac J Cancer Preve, 16, 7929-33.
- Ghoncheh M, Mohammadian-Hafshejani A, Salehiniya H (2015). Incidence and mortality of breast cancer and their relationship to development in Asia. Asian Pac J Cancer Prev, 16, 6081-7. https://doi.org/10.7314/APJCP.2015.16.14.6081
- Hall MJ, Reid JE, Burbidge LA, et al (2009). BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer, 115, 2222-33. https://doi.org/10.1002/cncr.24200
- Hansa J, Kannan R, Ghosh SK (2012). Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India. Asian Pac J Cancer Prev, 13, 5871-4. https://doi.org/10.7314/APJCP.2012.13.11.5871
- Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90. https://doi.org/10.3322/caac.20107
- Kainu T, Kononen J, Johansson O, et al (1996). Detection of germline BRCA1 mutations in breast cancer patients by quantitative messenger RNA in situ hybridization. Cancer Res, 56, 2912-5.
- Karami F, Mehdipour P (2013). A Comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. BioMed Research Int, 2013, 21.
- Kim H, Choi DH (2013). Distribution of BRCA1 and BRCA2 mutations in asian patients with breast cancer. J Breast Cancer, 16, 357-65. https://doi.org/10.4048/jbc.2013.16.4.357
- Lahiri DK, Nurnberger JI (1991). A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res, 19, 5444. https://doi.org/10.1093/nar/19.19.5444
- Miki Y, Swensen J, Shattuck-Eidens D, et al (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71. https://doi.org/10.1126/science.7545954
- Papelard H, de Bock GH, van Eijk R, et al (2000). Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients. Br J Cancer, 83, 719-24. https://doi.org/10.1054/bjoc.2000.1331
- Peto J, Collins N, Barfoot R, et al (1999). Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J National Cancer Institute, 91, 943-9. https://doi.org/10.1093/jnci/91.11.943
- Piya MK, Acharya SC (2012). Oncology in Nepal. South Asian J Cancer, 1, 5-8. https://doi.org/10.4103/2278-330X.96490
- 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. https://doi.org/10.1002/ijc.22269
- Saxena S, Chakraborty A, Kaushal M, et al (2006). Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet, 7, 75. https://doi.org/10.1186/1471-2350-7-75
- Shattuck-Eidens D, McClure M, Simard J, et al (1995). A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. Jama, 273, 535-41. https://doi.org/10.1001/jama.1995.03520310033026
- Singh YP, Sayami P (2009). Management of breast cancer in Nepal. JNMA J Nepal Med Assoc, 48, 252-7.
- Smigal C JA, Ward E, Cokkinides V, Smith R, Howe HL (2006). Trends in breast cancer by race and ethnicity: update 2006. J Clin Diagn Res, 56, 106-30.
- Stegel V, Krajc M, Zgajnar J, et al (2011). The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. BMC Med Genet, 12, 9.
- Struewing JP, Abeliovich D, Peretz T, et al (1995). The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet, 11, 198-200. https://doi.org/10.1038/ng1095-198
- Vaidyanathan K, Lakhotia S, Ravishankar H, et al (2009). BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation. J Biosciences, 34, 415-22. https://doi.org/10.1007/s12038-009-0048-9
- Walker JM, Rapley R (2005). Medical Biomethods Handbook, Springer.