期刊
CANCER LETTERS
卷 245, 期 1-2, 页码 90-95出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.canlet.2005.12.031
关键词
BRCA1; BRCA2; mutation analysis; breast cancer; Korean
类别
We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C > T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor. (c) 2006 Elsevier Ireland Ltd. All rights reserved.
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