A pilot study on screening of BRCA1 mutations (185delAG, 1294del40) in Nepalese breast cancer patients

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

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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 Irrespective of age group and stage of canceran appropriate amount of blood was withdrawn from 50 breast cancer patients and 20 controls.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

Original languageEnglish
Pages (from-to)1829-1832
Number of pages4
JournalAsian Pacific Journal of Cancer Prevention
Issue number4
StatePublished - 1 Jan 2016
Externally publishedYes


  • 185delAG
  • BRCA1
  • Breast cances
  • Mutation
  • Nepal
  • Susceptibility genes

ASJC Scopus subject areas

  • Epidemiology
  • Oncology
  • Public Health, Environmental and Occupational Health
  • Cancer Research


Dive into the research topics of 'A pilot study on screening of BRCA1 mutations (185delAG, 1294del40) in Nepalese breast cancer patients'. Together they form a unique fingerprint.

Cite this