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• W2048774310 abstract "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." @default.
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• W2048774310 date "2007-01-01" @default.
• W2048774310 modified "2023-09-27" @default.
• W2048774310 title "BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations" @default.
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• W2048774310 doi "https://doi.org/10.1016/j.canlet.2005.12.031" @default.
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