BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Jae Hong Seo, Dae Yeon Cho, Se Hyun Ahn, Kyung Sik Yoon, Chang Soo Kang, Hyun Mi Cho, Hyeon Sook Lee, Jae Jin Choe, Cheul Won Choi, Byung Soo Kim, Sang Won Shin, Yeul Hong Kim, Jun Suk Kim, Gil Soo Son, Jae Bok Lee, Bum Hwan Koo

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Abstract

In order to evaluate the role of BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer, 97 patients with sporadic breast cancer were analyzed for mutations in the BRCA1 and BRCA2 coding regions, by using a combination of fluorescent-conformation sensitive gel electrophoresis (F-CSGE) and direct sequencing. Fifty-five distinct sequence variants were detected, which included three pathogenic truncating mutations, 15 missense mutations, 16 polymorphisms, and 21 intronic variants. Twenty-six of these variants have never been previously reported and may be of Korean-specific origin. Two pathogenic BRCA1 mutations (c.922_924delinsT, c.5445G>A) and one pathogenic BRCA2 mutation (c.2259delT) were observed, and two of these (BRCA1 c.5445G>A and BRCA2 c.2259delT) are novel. The total prevalence of germline pathogenic mutations in BRCA1 and/or BRCA2 in Korean sporadic breast cancer is estimated to be about 3.1%. Considering that the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of germline BRCA mutations in sporadic breast cancer patients. Further study using a larger sample size is required to determine the merits of genetic diagnosis and counseling in breast cancer patients.

Original languageEnglish
JournalHuman Mutation
Volume24
Issue number4
Publication statusPublished - 2004 Oct 1

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Seo, J. H., Cho, D. Y., Ahn, S. H., Yoon, K. S., Kang, C. S., Cho, H. M., Lee, H. S., Choe, J. J., Choi, C. W., Kim, B. S., Shin, S. W., Kim, Y. H., Kim, J. S., Son, G. S., Lee, J. B., & Koo, B. H. (2004). BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. Human Mutation, 24(4).