Mutational Analysis of BRCA1 Gene in Ovarian and Breast‐ovarian Cancer Families in Japan

  title={Mutational Analysis of BRCA1 Gene in Ovarian and Breast‐ovarian Cancer Families in Japan},
  author={Masashi Takano and Hiroshi Aida and Ikunosuke Tsuneki and Koichi Takakuwa and Isao Hasegawa and Hajime Tanaka and Masaaki Saito and Shoji Tsuji and Takahiko Sonoda and Masayuki Hatae and J T Chen and Katsuyuki Takahashi and Kazuo Hasegawa and Nagayasu Toyoda and Noriyasu Saito and Michiaki Yakushiji and Tsutomu Araki and Kenichi Tanaka},
  booktitle={Japanese journal of cancer research : Gann},
We analyzed the alteration of BRCA1 in DNA obtained from 83 individuals of 13 Japanese site-specific ovarian cancer families and 6 breast-ovarian cancer families. Six germline mutations were detected in 7 families, which consisted of 4 breast-ovarian cancer and 3 site-specific ovarian cancer families, by single-strand conformation polymorphism analysis, followed by direct sequence determination. The mutations included three frameshifts, two nonsense mutations, and one missense mutation causing… CONTINUE READING


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