Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

@article{Ikeda2001FrequencyOB,
  title={Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.},
  author={Norihiko Ikeda and Yasuo Miyoshi and Kohri Yoneda and Eiichi Shiba and Yoshinobu Sekihara and Machiko Kinoshita and Shinzaburo Noguchi},
  journal={International journal of cancer},
  year={2001},
  volume={91 1},
  pages={83-8}
}
The purpose of this investigation is to study the frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Mutation analysis of BRCA1 and BRCA2 by SSCP was conducted on the 113 breast cancer patients (probands) with at least 1 breast cancer (site-specific breast cancer families, n = 101) or 1 ovarian cancer (breast/ovarian cancer families, n = 12) patient in their first-degree relatives. Fifteen deleterious mutations (13.3%), including 8 nonsense and 7 frameshift… CONTINUE READING

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