J Korean Med Sci.  2004 Apr;19(2):269-274. 10.3346/jkms.2004.19.2.269.

Prevalence of BRCA1 and BRCA2 Mutations in Korean Breast Cancer Patients

• Ahn SH
• Hwang UK
• Kwak BS
• Yoon HS
• Ku BK
• Kang HJ
• Kim JS
• Ko BK
• Ko CD
• Yoon KS
• Cho DY
• Kim JS
• Son BH

• KMID: 1733488
• DOI: http://doi.org/10.3346/jkms.2004.19.2.269

Abstract

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 highrisk factors. These findings suggest that BRCA gene mutation analysis should be performed on Korean patients with high-risk factors for breast cancer.

Keyword

Breast Neoplasms; Genes, BRCA1; Prevalence; Koreans

MeSH Terms

BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*epidemiology/*genetics
Female
Genetic Predisposition to Disease/epidemiology
Germ-Line Mutation
Human
Korea/epidemiology
*Point Mutation
Prevalence
Risk Factors
Support, Non-U.S. Gov't

Figure

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  Fig. 1 A typical scan of a F-CSGE fragment which harbors the BRCA1 sequence variations T875C (panel B) and 1041_1043delAGCinsT (panel D) in comparison with the wild-type control (panel A, C).

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  Fig. 2 BRCA mutations in breast cancer patients with high-risk factors in Korea (n=173). *UV, unverified mutation.

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