S-Space College of Medicine/School of Medicine (의과대학/대학원) Preventive Medicine (예방의학전공) Journal Papers (저널논문_예방의학전공)
BRCA1 및BRCA2 유전자 돌연변이에 기인한 한국인 유방암 및 난소암 위험도: 예비 연구 결과 보고
The Breast and Ovarian Cancer Risks in Korea Due to Inherited Mutations in BRCA1 and BRCA2: A Preliminary Report
- 한상아; 박수경; 안세현; 손병호; 이민혁; 최두호; 노동영; 한원식; 이은숙; 한서경; 김이수; 정용식; 김구상; 서영진; 문병인; 남석진; 노우철; 이정언; 김성원
- Issue Date
- KOREAN BREAST CANCER SOC
- JOURNAL OF BREAST CANCER; Vol.12 2; 92-99
- Breast neoplasms; Ovarian neoplasms; Risk; Penetrance of BRCA mutation; 유방암; 난소암; BRCA 돌연변이의 침투율; 위험도
- 본 논문은 2007 Global Breast Cancer Conference (GBCC)에서 포스터 발표되었음.
- Purpose: To estimate the cumulative risk till each age (penetrance) of breast and ovarian cancers among female family members with BRCA1 and BRCA2 mutation. Methods: Among the 61 BRCA1 mutation carriers in the 42 families and 47 BRCA2 mutation carriers in 31 families identified at 5 academic breast clinics, the probands were excluded to estimate the cumulative risk till each age of breast cancer in the Korean BRCA1 and BRCA2 carriers. Using Kaplan-Meier analyses, cumulative cancer risk estimates were determined. Results: By the age 70, the female breast cancer risk for the BRCA1 and BRCA2 mutation carriers was 72.1% (95% confidence interval [CI]=59.5% to 84.8%) and 66.3% (95% CI=41.2% to 91.5%), respectively, and the ovarian cancer risk was 24.6% (95% CI=0% to 50.3%) and 11.1% (95% CI=0% to 31.6%), respectively. The contralateral breast cancer risk at 5 years after primary breast cancer was estimated as 16.2% (95% CI=9.3% to 23.1%) for the 52 breast cancer patients with the BRCA1 mutation and 17.3% (95% CI=9.7% to 24.0%) for the 35 breast cancer patients with the BRCA2 mutation. Conclusion: The penetrance of BRCA mutations in Korea is largely consistent with the previous studies on Western populations. However, the small number of the cases, the high proportions of probands in the study subjects, the short term follow-up, and large confidence intervals are the limitations of the current study. The Korean Hereditary Breast Cancer Study (KOHBRA Study) may definitely answer this question.