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) |
1 | 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. DOI |
2 | 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. DOI |
3 | 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. |
4 | 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. |
5 | 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. DOI |
6 | 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. DOI |
7 | 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. DOI |
8 | Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90. DOI |
9 | 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. |
10 | Karami F, Mehdipour P (2013). A Comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. BioMed Research Int, 2013, 21. |
11 | Kim H, Choi DH (2013). Distribution of BRCA1 and BRCA2 mutations in asian patients with breast cancer. J Breast Cancer, 16, 357-65. DOI |
12 | 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. DOI |
13 | 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. DOI |
14 | 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. DOI |
15 | 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. DOI |
16 | Piya MK, Acharya SC (2012). Oncology in Nepal. South Asian J Cancer, 1, 5-8. DOI |
17 | Singh YP, Sayami P (2009). Management of breast cancer in Nepal. JNMA J Nepal Med Assoc, 48, 252-7. |
18 | 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. DOI |
19 | 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. DOI |
20 | 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. DOI |
21 | 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. |
22 | 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. |
23 | 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. DOI |
24 | 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. DOI |
25 | Walker JM, Rapley R (2005). Medical Biomethods Handbook, Springer. |
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