Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families

  • Authors:
    • Tae-Joong Kim
    • Kyung-Mee Lee
    • Chel Hun Choi
    • Jeong-Won Lee
    • Je-Ho Lee
    • Duk-Soo Bae
    • Byoung-Gie Kim
  • View Affiliations

  • Published online on: March 1, 2006     https://doi.org/10.3892/or.15.3.565
  • Pages: 565-569
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Abstract

Testing for cancer susceptibility gene, in particular mutations in the BRCA1 gene in association with hereditary breast/ovarian cancer has been extensively studied. We investigated germline mutations in the BRCA1 gene from two Korean hereditary breast/ovarian cancer families using direct DNA sequencing. Blood samples of the thirteen family members were studied. We found three missense mutations; 3232 A↷G, 2731 C↷T, 3667 A↷G. These mutations were involved in the altered coding of amino acids. According to the BIC database, clinical significance of these mutations is regarded as favor polymorphisms. Therefore, these genetic variations are not believed to be involved in the development of the disease, but may be associated with breast/ovarian cancers in another yet undefined way. For further clinical significance of these variations, additional study such as a case-controlled haplotyping study is needed.

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March 2006
Volume 15 Issue 3

Print ISSN: 1021-335X
Online ISSN:1791-2431

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Spandidos Publications style
Kim T, Lee K, Choi CH, Lee J, Lee J, Bae D and Kim B: Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. Oncol Rep 15: 565-569, 2006
APA
Kim, T., Lee, K., Choi, C.H., Lee, J., Lee, J., Bae, D., & Kim, B. (2006). Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. Oncology Reports, 15, 565-569. https://doi.org/10.3892/or.15.3.565
MLA
Kim, T., Lee, K., Choi, C. H., Lee, J., Lee, J., Bae, D., Kim, B."Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families". Oncology Reports 15.3 (2006): 565-569.
Chicago
Kim, T., Lee, K., Choi, C. H., Lee, J., Lee, J., Bae, D., Kim, B."Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families". Oncology Reports 15, no. 3 (2006): 565-569. https://doi.org/10.3892/or.15.3.565