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Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients

From the Departments of Therapeutic Radiology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT; and the Department of Surgery, Soonchunhyang University, Seoul, Korea.

Address reprint requests to Bruce G. Haffty, MD, Department of Therapeutic Radiology, Yale University School of Medicine, 333 Cedar St, New Haven, CT 06520-8040; e-mail: bruce.haffty{at}yale.edu

PURPOSE: The prevalence of BRCA-associated breast carcinoma in the Korean population has not been evaluated extensively.

METHODS: Sixty Korean women who developed breast cancer by age 40 years were studied. Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by complete sequencing. Family history through three generations was obtained. Available paraffin-embedded tissue blocks were processed for immunohistochemical staining.

RESULTS: In the cohort of 60 patients, nine patients with 11 deleterious mutations (six in BRCA1 and five in BRCA2) and seven missense mutations of unknown significance were found. Two patients had deleterious mutations in both BRCA1 and BRCA2 (double mutant). One half of the mutations were novel, and no founder mutations were observed in this cohort. Most of the BRCA-associated patients had no family history of breast and/or ovarian cancer. The expression of HER-2/neu, cyclin D1, and hormone receptors was less common, and p53 overexpression was more common in BRCA-associated tumors.

CONCLUSION: The prevalence of BRCA1 and BRCA2 mutations in Korean women with breast cancer at a young age was high. However, the penetrance, as evidenced by the low frequency of breast and ovarian cancers in family members, appears to be low. These data suggest that there may be different genetic and etiologic factors affecting transmission and penetrance of the BRCA genes in Korean patients with breast cancer diagnosed at a young age.

Supported by Greenwich Breast Cancer Alliance and the Ethel F. Donaghue Women's Health Investigator Program at Yale University School of Medicine.

Authors' disclosures of potential conflicts of interest are found at the end of this article.

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