Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients.
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.
Ahn
Sei Hyun
SH
Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea.
Hwang
Ui Kang
UK
Kwak
Beom Seok
BS
Yoon
Ho Sung
HS
Ku
Bo Kyung
BK
Kang
Hee Jun
HJ
Kim
Ji Su
JS
Ko
Byung Kyun
BK
Ko
Chang Dae
CD
Yoon
Kyung Sik
KS
Cho
Dae-Yeon
DY
Kim
Jun Suk
JS
Son
Byung Ho
BH
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D018095:Germ-Line Mutation; D006801:Humans; D007723:Korea / Q000453:epidemiology; D017354:Point Mutation; D015995:Prevalence; D012307:Risk Factors
D019313:BRCA1 Protein; D024682:BRCA2 Protein