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5. BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations

Author

Ahn, Sei Hyun, Son, Byung Ho, Yoon, Kyung-Sik, Noh, Dong-Young, Han, Wonshik, Kim, Sung-Won, Lee, Eun Sook, Park, Hai-Lin, Hong, Young Joon, Choi, Jae Jin, Moon, Seo Yun, Kim, Mi Jeong, Kim, Kye Hyun, Kwak, Beom Seok, and Cho, Dae-Yeon

Subjects
*GENETIC mutation, *BREAST cancer, *DIAGNOSIS, *KOREANS
Abstract

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. [Copyright &y& Elsevier]

Published
2007
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