title: A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients.
abstract: 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.
  
  
  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 Irrespective of age group and stage of canceran appropriate amount of blood was withdrawn from 50 breast cancer patients and 20 controls.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.
authors.affiliation: Department of Clinical Microbiology, Nobel College, Nepalese Army Institute of Health Science, College of Medicine, Kathmandu, Nepal E-mail : bek.bhatta@gmail.com.
authors.forename: Bibek
authors.initials: B
authors.lastname: Bhatta
authors.forename: Roshina
authors.initials: R
authors.lastname: Thapa
authors.forename: Sanjay
authors.initials: S
authors.lastname: Shahi
authors.forename: Yogesh
authors.initials: Y
authors.lastname: Bhatta
authors.forename: Dipendra Raj
authors.initials: DR
authors.lastname: Pandeya
authors.forename: Bal Hari
authors.initials: BH
authors.lastname: Poudel
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D055088:Early Detection of Cancer; D005260:Female; D005500:Follow-Up Studies; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009367:Neoplasm Staging; D009390:Nepal / Q000453:epidemiology; D010865:Pilot Projects; D015995:Prevalence; D011379:Prognosis; D011446:Prospective Studies
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human