{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:55:37Z","timestamp":1761918937154},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T00:00:00Z","timestamp":1163116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:p>To investigate the role of <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutations in Korean patients with sporadic breast cancer, 793 breast cancer patients were analyzed by denaturing high performance liquid chromatography and direct sequencing. The 793 breast cancer patients enrolled in this study had no family history of affected first\u2010 or second\u2010degree relatives with breast and\/or ovarian cancer. Seventy\u2010nine different sequence variations were identified, of which 34 were novel. Fifteen deleterious mutations were detected in 20 out of 793 patients (2.5%): 11 frameshift mutations and 4 nonsense mutations (seven in <jats:italic>BRCA1<\/jats:italic> and eight in <jats:italic>BRCA2<\/jats:italic>), and no recurrent or founder mutations were observed in <jats:italic>BRCA<\/jats:italic> mutation screening. However, three mutations (K467X, 3972delTGAG, and R2494X in <jats:italic>BRCA2<\/jats:italic>) were identified in other studies of the Korean population. Of 793 patients, the clinicopathological information was obtained in 135 patients, who included 20 deleterious mutation\u2010positive and 115 deleterious mutation\u2010negative groups. The median age at diagnosis, histologic type, histologic grade and T stage did not show statistically significant difference between these two groups. <jats:italic>BRCA<\/jats:italic>\u2010mutation\u2010associated tumors showed lower estrogen receptor, progesterone receptor, and HER\u20102\/<jats:italic>neu<\/jats:italic> but higher p53 expression. Although poor prognostic features were noted in <jats:italic>BRCA<\/jats:italic>\u2010associated tumors, we did not find statistically significant differences. The present study will be helpful in the evaluation of the need for the genetic screening of germline <jats:italic>BRCA<\/jats:italic> mutations and reliable genetic counseling for sporadic breast cancer patients.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00717.x","type":"journal-article","created":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T13:47:00Z","timestamp":1163166420000},"page":"496-501","source":"Crossref","is-referenced-by-count":47,"title":["Mutation analysis of <i>BRCA1<\/i> and <i>BRCA2<\/i> from 793 Korean patients with sporadic breast cancer"],"prefix":"10.1111","volume":"70","author":[{"given":"S\u2010H","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u2010R","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u2010G","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u2010Y","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u2010E","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W\u2010S","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,11,10]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"crossref","unstructured":"Korean Breast Cancer Society.Clinical Characteristics of Breast Cancer Patients in Korea in 2000.Arch Surg2004:139:27\u201330.","DOI":"10.1001\/archsurg.139.1.27"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10194"},{"key":"e_1_2_5_4_2","first-page":"678","article-title":"Genetic linkage analysis in familial breast and ovarian cancer results from 214 families. 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