title: Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients.
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 high risk factors. These findings suggest that BRCA gene mutation analysis should be performed on Korean patients with high-risk factors for breast cancer.
authors.affiliation: Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea.
authors.forename: Sei Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Ui Kang
authors.initials: UK
authors.lastname: Hwang
authors.forename: Beom Seok
authors.initials: BS
authors.lastname: Kwak
authors.forename: Ho Sung
authors.initials: HS
authors.lastname: Yoon
authors.forename: Bo Kyung
authors.initials: BK
authors.lastname: Ku
authors.forename: Hee Jun
authors.initials: HJ
authors.lastname: Kang
authors.forename: Ji Su
authors.initials: JS
authors.lastname: Kim
authors.forename: Byung Kyun
authors.initials: BK
authors.lastname: Ko
authors.forename: Chang Dae
authors.initials: CD
authors.lastname: Ko
authors.forename: Kyung Sik
authors.initials: KS
authors.lastname: Yoon
authors.forename: Dae-Yeon
authors.initials: DY
authors.lastname: Cho
authors.forename: Jun Suk
authors.initials: JS
authors.lastname: Kim
authors.forename: Byung Ho
authors.initials: BH
authors.lastname: Son
mesh_terms: 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
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein