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      https://www.ias.ac.in/article/fulltext/jbsc/034/03/0415-0422

    • Keywords

       

      BRCA1; BRCA2; breast cancer; cancer predisposition; CSGE; haplotype; mutation; PCR

    • Abstract

       

      Mutations in the BRCA1 and BRCA2 genes profoundly increase the risk of developing breast and/or ovarian cancer among women. To explore the contribution of BRCA1 and BRCA2 mutations in the development of hereditary breast cancer among Indian women, we carried out mutation analysis of the BRCA1 and BRCA2 genes in 61 breast or ovarian cancer patients from south India with a positive family history of breast and/or ovarian cancer. Mutation analysis was carried out using conformation-sensitive gel electrophoresis (CSGE) followed by sequencing. Mutations were identified in 17 patients (28.0%); 15 (24.6%) had BRCA1 mutations and two (3.28%) had BRCA2 mutations. While no specific association between BRCA1 or BRCA2 mutations with cancer type was seen, mutations were more often seen in families with ovarian cancer. While 40% (4/10) and 30.8% (4/12) of families with ovarian or breast and ovarian cancer had mutations, only 23.1% (9/39) of families with breast cancer carried mutations in the BRCA1 and BRCA2 genes. In addition, while BRCA1 mutations were found in all age groups, BRCA2 mutations were found only in the age group of ≤ 40 years. Of the BRCA1 mutations, there were three novel mutations (295delCA; 4213T → A; 5267T → G) and three mutations that have been reported earlier. Interestingly, 185delAG, a BRCA1 mutation which occurs at a very high frequency in Ashkenazi Jews, was found at a frequency of 16.4% (10/61). There was one novel mutation (4866insT) and one reported mutation in BRCA2. Thus, our study emphasizes the importance of mutation screening in familial breast and/or ovarian cancers, and the potential implications of these findings in genetic counselling and preventive therapy.

    • Author Affiliations

       

      Kannan Vaidyanathan1 Smita Lakhotia1 H M Ravishankar1 Umaira Tabassum2 Geetashree Mukherjee2 Kumaravel Somasundaram1

      1. Department of Microbiology and Cell Biology, Indian Institute of Science, Bangalore 560 012, India
      2. Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore 560 068, India
    • Dates

       
  • Journal of Biosciences | News

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