The Breast Cancer Research Group
- Collaboration established with Oncologists across TamilNadu
- We have created a compendium of resource material on breast cancer that highlights the genetic and medical aspects of breast cancer ( Student Project - N.P.Durgha )
This approach aims at analyzing mutations in BRCA1 using computational biology methods. This involves:
Patient data from the BIC database, which is an open access, on-line mutation database for breast cancer susceptibility genes has been downloaded. Programs have been written in Java to aid analysis of the BIC data.Mutation pattern analysis for all the exons in BRCA1 has been completed. Mutations which are present across ethnic groups have been classified as hotspots. Analysis shows that there are certain mutation hotspots common to many ethnic groups and these hotspots within specific exons have been tested experimatally for our population.
- Identification of mutation hotspots in BRCA1 gene and correlation to ethnicity from BIC database
- Rapid screening of specific exons in BRCA1 experimentally
- Experimental
Nine hereditary breast cancer patients have been identified and DNA was extracted from peripheral blood mononuclear cells.The entire 22 coding exons and flanking splice site regions of BRCA1 are being amplified by 34 sets of primers. One set of primers is used to amplify each exon and the adjacent intronic region, except for exon 11, in which 13 sets of primer sets are used to amplify the entire exon.
PCR reactions are being carried out by adopting standard protocols. The PCR products are being analysed for mutations in BRCA1 by Conformation Sensitive Gel Electrophoresis. Among the nine patients with a positive family history of breast cancer, one showed a differentially migrating band in the CSGE gel for exon 2, which arises due to heteroduplex formation. Sequencing for exon 2 is underway to confirm the mutation ( MS student project - K. Kadalmani )
Data analysis is underway of a hospital-based, case-control study of breast carcinoma for a period of five years. Reproductive risk factors such as age at menarche, age at marriage, age at first child birth and age at menopause have been analysed. These could possibly reveal the contribution of hormonal factors in the development of breast cancer for the local population.
DNA samples from 100 sporadic breast cancer patients spread across TamilNadu have been collected. PCR-RFLP analyses are being performed for ESR, CYP1A1 and NAT genetic markers.