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

The Change of Practice Patterns of the Hereditary Breast Cancer Management in Korea after the Korean Hereditary Breast Cancer Study

본 논문은 2010 한국유방암학회 춘계학술대회에서 구연 발표되었음.Purpose: The objective of this study was to evaluate the change in the practice patterns for managing hereditary breast and ovarian cancer (HBOC) among Korean physicians after the Korean Hereditary Breast Cancer (KOHBRA) study. Methods: The first survey was performed from July to August 2007, at the initiation of the KOHBRA study, and the follow-up survey was conducted from July to December 2009. Members of the Korean Breast Cancer Society were invited to participate in the study by e-mail. The 2009 survey was conducted with a self-administered questionnaire concerning HBOC management and was identical to the previous questionnaire. Results: According to the 2009 survey, most physicians (60.0%) tended to draw a pedigree (48.0% in 2007 survey). The rate of genetic test recommendations for patients at risk for HBOC was higher in the 2009 survey (84.0%) than that in the 2007 survey (64.0%). Physicians tended to select a BRCA genetic testing candidate more appropriately than in the previous survey (42.4% answered right in 2007 survey; 74.4% in 2009 survey). Fifteen of 25 participants (60.0%) provided genetic counseling before their patients underwent a genetic test, which was higher than that (40.0%) in the 2007 survey. According to the 2009 survey, half of the genetic counseling was being conducted by KOHBRA study research nurses; whereas most of the genetic counseling was conducted by physicians in 2007. Conclusion: The KOHBRA study has played an important role in the appropriate selection of candidates for genetic testing. However, more effort should be placed on improving the pre-test genetic counseling rate.본 연구는 보건복지부 암정복연구비의 지원을 받아 시행되었음(과제번호 0720450).Robson ME, 2010, J CLIN ONCOL, V28, P893, DOI 10.1200/JCO.2009.27.0660Han SA, 2009, J BREAST CANCER, V12, P92, DOI 10.4048/jbc.2009.12.2.92Ko SS, 2008, J SURG ONCOL, V98, P318, DOI 10.1002/jso.21110Kim KS, 2008, J BREAST CANCER, V11, P95Kim EK, 2007, J BREAST CANCER, V10, P241Chenevix-Trench G, 2007, BREAST CANCER RES, V9, DOI 10.1186/bcr1670Fisher B, 2005, J NATL CANCER I, V97, P1652, DOI 10.1093/jnci/dji372Eisen A, 2005, J CLIN ONCOL, V23, P7491, DOI 10.1200/JCO.2004.00.7138Nelson HD, 2005, ANN INTERN MED, V143, P362Green MJ, 2004, JAMA-J AM MED ASSOC, V292, P442Choi DH, 2004, J CLIN ONCOL, V22, P1638, DOI 10.1200/JCO.2004.04.179Ahn SH, 2004, J KOREAN MED SCI, V19, P269Rebbeck TR, 2004, J CLIN ONCOL, V22, P1055, DOI 10.1200/JCO.2004.04.188Antoniou A, 2003, AM J HUM GENET, V72, P1117Rebbeck TR, 2002, NEW ENGL J MED, V346, P1616KANG HC, 2002, HUM MUTAT, V20, P235Malone KE, 2000, CANCER, V88, P1393Hartmann LC, 1999, NEW ENGL J MED, V340, P77Fisher B, 1998, J NATL CANCER I, V90, P1371Ford D, 1998, AM J HUM GENET, V62, P676Parmigiani G, 1998, AM J HUM GENET, V62, P145ShattuckEidens D, 1997, JAMA-J AM MED ASSOC, V278, P1242Dinkel MK, 1997, J CLIN ONCOL, V15, P2157Claus EB, 1996, CANCER, V77, P2318WOOSTER R, 1995, NATURE, V378, P789OH JH, 1995, J KOREAN CANC ASS, V27, P1061FRIEDMAN LS, 1994, NAT GENET, V8, P399*NAT COMPR CANC NE, NCCN CLIN PRACT GUID