A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients

Bhatta, Bibek; Thapa, Roshina; Shahi, Sanjay; Bhatta, Yogesh; Pandeya, Dipendra Raj; Poudel, Bal Hari

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자료유형: 학술저널

저자정보: 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)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제17권 제4호

발행연도: 2016.1

수록면: 1,829 - 1,832 (4page)

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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 Irrespective of age group and stage of canceran appropriate amount of blood was withdrawn from 50 breast cancer patients and 20 controls.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.

#Breast cances #susceptibility genes #BRCA1 #185delAG #mutation #Nepal

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