Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients

Sei Hyun Ahn, Ui Kang Hwang, Beom Seok Kwak, Ho Sung Yoon, Bo Kyung Ku, Hee Jun Kang, Ji Su Kim, Byung Kyun Ko, Chang Dae Ko, Kyung Sik Yoon, Dae Yeon Cho, Jun Suk Kim, Byung Ho Son

Research output: Contribution to journalArticlepeer-review

34 Citations (Scopus)


The incidence of breast cancer in Korea has been increasing in recent years, such that it is now the most common female cancer. Breast cancer in Korea is characterized by an earlier age of onset than in Western countries, suggesting that it would be related with genetic background. We assayed germline mutations in the BRCA genes to evaluate their genetic pathology in Korean breast cancer patients. The study subjects consisted of 173 patients at clinically higher risk and 109 unselected patients. Germline mutations in the entire coding sequences of the BRCA1 and BRCA2 genes were analyzed by Conformation-Sensitive Gel Electrophoresis (CSGE), and any aberrantly-sized band was sequenced. BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients. Among high risk patients, mutations were most prevalent in patients with a family history of breast or first-degree ovarian cancer (22.1%), followed by those with male breast cancer (20%), bilateral breast cancer (20%), multiple organ cancer including breast (13%) and younger breast cancer patients (aged <35 yr) (8.1%). Moreover, BRCA mutations were detected in 34.8% of patients having two high-risk factors. These findings suggest that BRCA gene mutation analysis should be performed on Korean patients with high-risk factors for breast cancer.

Original languageEnglish
Pages (from-to)269-274
Number of pages6
JournalJournal of Korean medical science
Issue number2
Publication statusPublished - 2004 Apr
Externally publishedYes


  • BRCA1
  • Breast Neoplasms
  • Genes
  • Koreans
  • Prevalence

ASJC Scopus subject areas

  • General Medicine


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