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Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families

Kumar, Vinod B and Lakhotia, Smita and Ankathil, Ravindran and Madhavan, Jayaprakash and Jayaprakash, PG and Nair, Krishnan M and Somasundaram, Kumaravel (2002) Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families. In: Cancer Biology and Therapy, 1 (1). pp. 18-21.

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Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2. To explore the contribution of BRCA1 mutations to hereditary breast cancer among Indian women, we examined the coding sequence of the BRCA1 gene in 14 breast cancer patients 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. Three mutations (21%) in the BRCA1 gene were identified. Two of them are novel mutations of which one is a missense mutation in exon 7 near the RING finger domain, while the other is a one base pair deletion in exon 11 which results in protein truncation. The third mutation, 185delAG, has been previously described in Ashkenazi Jewish families. To our knowledge this is the first report of a study of germline BRCA1 mutation analysis in familial breast cancer in India. Our data from 14 different families suggests a lower prevalence but definite involvement of germline mutations in the BRCA1 gene among Indian women with breast cancer and a family history of breast cancer.

Item Type: Journal Article
Publication: Cancer Biology and Therapy
Publisher: Landes Bioscience
Additional Information: Copyright of this article belongs to Landes Bioscience.
Keywords: BRCA1;Breast Cancer;CSGE;PCR;Mutation;Cancer Predisposition
Department/Centre: Division of Biological Sciences > Microbiology & Cell Biology
Date Deposited: 19 Jul 2011 05:18
Last Modified: 19 Jul 2011 05:18
URI: http://eprints.iisc.ac.in/id/eprint/39221

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