{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T11:03:33Z","timestamp":1784372613815,"version":"3.55.0"},"reference-count":48,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCO"],"published-print":{"date-parts":[[2004,5,1]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p> The prevalence of BRCA-associated breast carcinoma in the Korean population has not been evaluated extensively. <\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p> Sixty Korean women who developed breast cancer by age 40 years were studied. Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by complete sequencing. Family history through three generations was obtained. Available paraffin-embedded tissue blocks were processed for immunohistochemical staining. <\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p> In the cohort of 60 patients, nine patients with 11 deleterious mutations (six in BRCA1 and five in BRCA2) and seven missense mutations of unknown significance were found. Two patients had deleterious mutations in both BRCA1 and BRCA2 (double mutant). One half of the mutations were novel, and no founder mutations were observed in this cohort. Most of the BRCA-associated patients had no family history of breast and\/or ovarian cancer. The expression of HER-2\/neu, cyclin D1, and hormone receptors was less common, and p53 overexpression was more common in BRCA-associated tumors. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p> The prevalence of BRCA1 and BRCA2 mutations in Korean women with breast cancer at a young age was high. However, the penetrance, as evidenced by the low frequency of breast and ovarian cancers in family members, appears to be low. These data suggest that there may be different genetic and etiologic factors affecting transmission and penetrance of the BRCA genes in Korean patients with breast cancer diagnosed at a young age. <\/jats:p><\/jats:sec>","DOI":"10.1200\/jco.2004.04.179","type":"journal-article","created":{"date-parts":[[2004,4,29]],"date-time":"2004-04-29T22:34:18Z","timestamp":1083278058000},"page":"1638-1645","source":"Crossref","is-referenced-by-count":95,"title":["Incidence of <i>BRCA1<\/i> and <i>BRCA2<\/i> Mutations in Young Korean Breast Cancer Patients"],"prefix":"10.1200","volume":"22","author":[{"given":"Doo Ho","family":"Choi","sequence":"first","affiliation":[{"name":"From the Departments of Therapeutic Radiology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT; and the Department of Surgery, Soonchunhyang University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Hyuk","family":"Lee","sequence":"additional","affiliation":[{"name":"From the Departments of Therapeutic Radiology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT; and the Department of Surgery, Soonchunhyang University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen E.","family":"Bale","sequence":"additional","affiliation":[{"name":"From the Departments of Therapeutic Radiology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT; and the Department of Surgery, Soonchunhyang University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl","family":"Carter","sequence":"additional","affiliation":[{"name":"From the Departments of Therapeutic Radiology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT; and the Department of Surgery, Soonchunhyang University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce G.","family":"Haffty","sequence":"additional","affiliation":[{"name":"From the Departments of Therapeutic Radiology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT; and the Department of Surgery, Soonchunhyang University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"233","reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.3322\/canjclin.50.1.7"},{"key":"R3","unstructured":"Miller BA, Kolonel LN, Bernstein L: Racial\/ethnic patterns of cancer in the United States, 1988-1992 . Bethesda, MD, National Cancer Institute, 1996"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1126\/science.7545954"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.1038\/378789a0"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1998.16.5.1642"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1998.16.5.1639"},{"key":"R8","unstructured":"Ford D, Easton DF, Peto J: Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 57:1457,1995\u20131462,"},{"key":"R9","unstructured":"Abeliovich D, Kaduri L, Lerer I, et al: The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60:505,1997\u2013514,"},{"key":"R10","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-126"},{"key":"R11","unstructured":"Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al: High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res 56:3663,1996\u20133665,"},{"key":"R12","unstructured":"Thorlacius S, Sigurdsson S, Bjarnadottir H, et al: Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 60:1079,1997\u20131084,"},{"key":"R13","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705153362003"},{"key":"R14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199601183340301"},{"key":"R15","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(20000315)88:6<1393::AID-CNCR17>3.0.CO;2-P"},{"key":"R16","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-8049(00)00110-6"},{"key":"R17","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.11.943"},{"key":"R18","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1407"},{"key":"R19","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1331"},{"key":"R20","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/93.16.1215"},{"key":"R21","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6690008"},{"key":"R22","unstructured":"Chang J, Hilsenbeck SG, Sng JH, et al: Pathological features and BRCA1 mutation screening in premenopausal breast cancer patients. Clin Cancer Res 7:1739,2001\u20131742,"},{"key":"R23","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10194"},{"key":"R24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705153362002"},{"key":"R25","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705153362001"},{"key":"R26","doi-asserted-by":"publisher","DOI":"10.1086\/301749"},{"key":"R27","doi-asserted-by":"publisher","DOI":"10.1086\/303076"},{"key":"R28","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.12.824"},{"key":"R29","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a009506"},{"key":"R30","doi-asserted-by":"publisher","DOI":"10.1086\/302350"},{"key":"R31","doi-asserted-by":"publisher","DOI":"10.1038\/338389a0"},{"key":"R32","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200007133430201"},{"key":"R33","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/132.3.552S"},{"key":"R34","unstructured":"Lu LJ, Anderson KE, Grady JJ, et al: Decreased ovarian hormones during a soya diet: Implications for breast cancer prevention. Cancer Res 60:4112,2000\u20134121,"},{"key":"R35","doi-asserted-by":"publisher","DOI":"10.1086\/301903"},{"key":"R36","doi-asserted-by":"crossref","unstructured":"Kang HC, Kim IJ, Park JH, et al: Germline mutations of BRCA1 and BRCA2 in Korean breast and\/or ovarian cancer families. Hum Mutat 20:235,2002\u2013240,","DOI":"10.1002\/humu.9059"},{"key":"R37","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91578-4"},{"key":"R38","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-188"},{"key":"R39","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-14"},{"key":"R40","doi-asserted-by":"publisher","DOI":"10.1086\/302040"},{"key":"R41","doi-asserted-by":"publisher","DOI":"10.1086\/301889"},{"key":"R42","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2002.20.6.1480"},{"key":"R43","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"R44","doi-asserted-by":"publisher","DOI":"10.1016\/S0921-8777(00)00034-3"},{"key":"R45","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.4.353"},{"key":"R46","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-8049(97)89007-7"},{"key":"R47","doi-asserted-by":"crossref","unstructured":"Crook T, Crossland S, Crompton MR, et al: p53 mutations in BRCA1-associated familial breast cancer. Lancet 350:638,1997\u2013639,","DOI":"10.1016\/S0140-6736(05)63327-2"},{"key":"R48","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19981201)83:11<2335::AID-CNCR13>3.0.CO;2-N"},{"key":"R49","doi-asserted-by":"publisher","DOI":"10.1038\/90108"}],"container-title":["Journal of Clinical Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ascopubs.org\/doi\/pdfdirect\/10.1200\/JCO.2004.04.179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T20:29:40Z","timestamp":1653510580000},"score":1,"resource":{"primary":{"URL":"https:\/\/ascopubs.org\/doi\/10.1200\/JCO.2004.04.179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,1]]},"references-count":48,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2004,5,1]]}},"alternative-id":["10.1200\/JCO.2004.04.179"],"URL":"https:\/\/doi.org\/10.1200\/jco.2004.04.179","relation":{},"ISSN":["0732-183X","1527-7755"],"issn-type":[{"value":"0732-183X","type":"print"},{"value":"1527-7755","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,1]]}}}