BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India.

@article{Rajkumar2003BRCA1BA,
  title={BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India.},
  author={T. Dhiliphan Rajkumar and N Soumittra and Nirmala Karunakaran Nancy and Rajaraman Swaminathan and Veluswami Sridevi and Vishwanathan Shanta},
  journal={Asian Pacific journal of cancer prevention : APJCP},
  year={2003},
  volume={4 3},
  pages={203-8}
}
Cancer of the breast is the second most common cancer seen among Indian women. This study describes the use of DHPLC for mutation analysis for BRCA1, BRCA2 and CHEK2 (1100delC) in 22 patients with a family history of breast and/or ovarian cancer and early onset breast cancer (<35 years of age). Three of the 22 patients were found to have a non-sense mutation or a deletion, resulting in a premature stop codon, potentially leading to a truncated protein. Two of these were in BRCA1 (one was a… CONTINUE READING

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