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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| s42003-020-01301-9.pdf | 1.3 MB | Adobe PDF | 見る/開く |
| タイトル: | Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants |
| 著者: | Inagaki-Kawata, Yukiko Yoshida, Kenichi Kawaguchi-Sakita, Nobuko Kawashima, Masahiro    https://orcid.org/0000-0002-4738-8351 (unconfirmed)Nishimura, Tomomi Senda, Noriko Shiozawa, Yusuke Takeuchi, Yasuhide https://orcid.org/0000-0002-1262-2355 (unconfirmed)Inoue, Yoshikage Sato-Otsubo, Aiko Fujii, Yoichi Nannya, Yasuhito Suzuki, Eiji Takada, Masahiro https://orcid.org/0000-0002-5954-1296 (unconfirmed)Tanaka, Hiroko Shiraishi, Yuichi Chiba, Kenichi Kataoka, Yuki Torii, Masae Yoshibayashi, Hiroshi Yamagami, Kazuhiko Okamura, Ryuji Moriguchi, Yoshio Kato, Hironori Tsuyuki, Shigeru Yamauchi, Akira Suwa, Hirofumi Inamoto, Takashi Miyano, Satoru Ogawa, Seishi Toi, Masakazu https://orcid.org/0000-0003-1488-9958 (unconfirmed) |
| 著者名の別形: | 稲垣, 有希子 吉田, 健一 川口, 展子 川島, 雅央 西村, 友美 仙田, 典子 塩澤, 裕介 竹内, 康英 藤井, 陽一 南谷, 泰仁 鈴木, 栄治 髙田, 正泰 田中, 洋子 白石, 友一 千葉, 健一 片岡, 裕貴 鳥井, 雅恵 芳林, 浩史 山神, 和彦 岡村, 隆仁 森口, 喜生 加藤, 大典 露木, 茂 山内, 清明 諏訪, 裕文 稲本, 俊 宮野, 悟 小川, 誠司 戸井, 雅和 |
| キーワード: | Breast cancer Cancer genetics |
| 発行日: | 16-Oct-2020 |
| 出版者: | Springer Nature |
| 誌名: | Communications Biology |
| 巻: | 3 |
| 論文番号: | 578 |
| 抄録: | The genetic and clinical characteristics of breast tumors with germline variants, including their association with biallelic inactivation through loss-of-heterozygosity (LOH) and second somatic mutations, remain elusive. We analyzed germline variants of 11 breast cancer susceptibility genes for 1, 995 Japanese breast cancer patients, and identified 101 (5.1%) pathogenic variants, including 62 BRCA2 and 15 BRCA1 mutations. Genetic analysis of 64 BRCA1/2-mutated tumors including TCGA dataset tumors, revealed an association of biallelic inactivation with more extensive deletions, copy neutral LOH, gain with LOH and younger onset. Strikingly, TP53 and RB1 mutations were frequently observed in BRCA1- (94%) and BRCA2- (9.7%) mutated tumors with biallelic inactivation. Inactivation of TP53 and RB1 together with BRCA1 and BRCA2, respectively, involved LOH of chromosomes 17 and 13. Notably, BRCA1/2 tumors without biallelic inactivation were indistinguishable from those without germline variants. Our study highlights the heterogeneity and unique clonal selection pattern in breast cancers with germline variants. |
| 記述: | 遺伝性乳癌の遺伝学的・臨床学的特徴を解明 --BRCA1/2 変異乳癌は両アレルの不活化の有無により異なった特徴を持つ--. 京都大学プレスリリース. 2020-10-26. |
| 著作権等: | © The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| URI: | http://hdl.handle.net/2433/255639 |
| DOI(出版社版): | 10.1038/s42003-020-01301-9 |
| PubMed ID: | 33067557 |
| 関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2020-10-26 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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