Article
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Cancer science - 1 Jul 2023
Yamazawa Kazuki, Sugano Kokichi, Tanakaya Kohji, Inoue Satomi, Murakami Haruka, Nakashima Moeko, Adachi Masataka, Oki Shinya, Makabe Takeshi, Yamashita Hiroshi, Ueki Arisa, Sasaoka Ayako, Nakashoji Ayako, Kinoshita Takayuki, Matsunaga Tatsuo, Arai Masami, Nakamura Seigo, Miyata Hiroaki, Ikegami Masachika, Mano Hiroyuki, Kohsaka Shinji, Matsui Akira
Abstract excerpt
Substantial numbers of variants of unknown significance (VUSs) have been identified in BRCA1/2 through genetic testing, which poses a significant clinical challenge because the contribution of these VUSs to cancer predisposition has not yet been determined. Here, we report 10 Japanese patients from seven families with breast or ovarian cancer harboring the BRCA2 c.7847C>T (p.Ser2616Phe) variant that was...
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