The Breast and Ovarian Cancer Risks in Korea Due to Inherited Mutations in BRCA1 and BRCA2: A Preliminary Report

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.Kim KS, 2008, J BREAST CANCER, V11, P95Kim EK, 2007, J BREAST CANCER, V10, P241Vogl FD, 2007, FAM CANCER, V6, P63, DOI 10.1007/s10689-006-9106-8Ahn SH, 2007, CANCER LETT, V245, P90, DOI 10.1016/j.canlet.2005.12.031Schlich-Bakker KJ, 2006, PATIENT EDUC COUNS, V62, P13, DOI 10.1016/j.pec.2005.08.012Metcalfe K, 2004, J CLIN ONCOL, V22, P2328, DOI 10.1200/JCO.2004.04.033Choi DH, 2004, J CLIN ONCOL, V22, P1638, DOI 10.1200/JCO.2004.04.179King MC, 2003, SCIENCE, V302, P643Antoniou A, 2003, AM J HUM GENET, V72, P1117Kauff ND, 2003, CANCER, V97, P1601, DOI 10.1002/cncr.11225Liede A, 2002, HUM MUTAT, V20, P413, DOI 10.1002/humu.10154Brose MS, 2002, J NATL CANCER I, V94, P1365IKEDA N, 2002, J BREAST CANCER, V5, P194Eng C, 2001, J MED GENET, V38, P824Risch HA, 2001, AM J HUM GENET, V68, P700ROBSON ME, 2001, CURR PROB SURG, V38, P387Ponder BAJ, 2000, BRIT J CANCER, V83, P1301Matloff ET, 2000, J CLIN ONCOL, V18, P2484Wagner TMU, 2000, BRIT J CANCER, V82, P1249Julian-Reynier C, 2000, EUR J HUM GENET, V8, P204Schrag D, 2000, JAMA-J AM MED ASSOC, V283, P617Antoniou AC, 2000, GENET EPIDEMIOL, V18, P173Arnold N, 1999, HUM MUTAT, V14, P333Newman B, 1998, JAMA-J AM MED ASSOC, V279, P915Ford D, 1998, AM J HUM GENET, V62, P676Claus EB, 1996, CANCER, V77, P2318Nieto FJ, 1996, AM J EPIDEMIOL, V143, P1059FORD D, 1995, AM J HUM GENET, V57, P1457EASTON DF, 1995, AM J HUM GENET, V56, P265FORD D, 1994, LANCET, V343, P692KAPLAN EL, 1958, J AM STAT ASSOC, V53, P457