36P - BRCA1 germline mutation analysis among eastern Indian women: Identification of three novel mutations and high-frequency occurrence of 5382insC muta...

Date 19 December 2015
Event ESMO Asia 2015 Congress
Session Poster presentation 1
Topics Pathology/Molecular Biology
Translational Research
Basic Scientific Principles
Basic Principles in the Management and Treatment (of cancer)
Presenter Jayasri Basak
Citation Annals of Oncology (2015) 26 (suppl_9): 8-15. 10.1093/annonc/mdv518
Authors J. Basak, A. Chakraborty, A. Mukhopadhyay
  • Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute, 700016 - Kolkata/IN



Breast cancer (BC) has been identified as an increasing risk among the female cancer patients of West Bengal. Mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 account for more than 80% of hereditary breast and ovarian cancers. To explore the contribution of BRCA1mutations in the development of hereditary BC among these women, we carried out mutation analysis of the BRCA1genein 231BCpatients from eastern India.


130 proband with positive family history and 101 without family history were selected from a tertiary cancer hospital, Kolkatafor the detection of BRCA1 mutations. To predict the functional effect of novel mutations in BRCA1 gene, in-silico analysis and m-RNA folding were performed. Surveillance and preventive measures were proposed to the high-risk individuals.


In total, 18 (7.79%) genetic alterations were identified. Interestingly, 5382insC, a BRCA1 mutation which occurs at a very high frequency in Ashkenazi Jews, was found at a frequency of 3.03% (7/231).Among our patients, two novel missense variants (c.5237AàC; c.5210 GàA)and one novel frame shift mutation (c.4495GC > C) were identified, as evidenced from the Human Genome Variation Society (HGVS) or Breast Cancer Information Core (BIC). Other mutations were UTR-17insg (n = 3); UTR -17ins g and UTR-13gàc (n = 2), UTR-13gàc (n = 1), c.75CàA (n = 1) and c.4675 + 1GàA (n = 1). The in-silicoanalysis revealed that both the novel mutations probably alters the structure and reduces the protein stability of BRCA1.


Thus, our study emphasizes the importance of mutation screening in familial BC, and the potential implications of these findings in genetic counseling and preventive therapy.

Clinical trial identification

Not applicable


All authors have declared no conflicts of interest.