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ヨツモト ジュンコ
YOTSUMOTO Junko
四元 淳子 所属 埼玉医科大学 医学部 ゲノム医療科 職種 専任講師 |
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| 論文種別 | 学術雑誌(原著) |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X. |
| 掲載誌名 | 正式名：Oncotarget 略 称：Oncotarget ISSNコード：19492553/19492553 |
| 掲載区分 | 国外 |
| 巻・号・頁 | 10(35),3276-3284頁 |
| 著者・共著者 | Yoshida Reiko, Watanabe Chie, Yokoyama Shiro, Inuzuka Mayuko, Yotsumoto Junko, Arai Masami, Nakamura Seigo, |
| 発行年月 | 2019/05 |
| 概要 | BACKGROUND: BRCA1/2 are high-penetrance genes with race-specific founder mutations. This study investigated clinicopathological characteristics of Japanese HBOC patients with the Japanese founder mutation, BRCA1 L63X.
METHODS: From 827 patients in the Japanese HBOC consortium (through August 2015), BRCA1/2 carriers were selected. Features were compared among BRCA1 L63X, other BRCA1, and BRCA2 carriers using the Chi-square test. RESULTS: Among 88 BRCA1 and 76 BRCA2 carriers, BRCA1 L63X was found in 26 of 46 independent BRCA1 mutations. Significant differences were observed in the triple-negative phenotype (88.9% for L63X, 72.5% for other BRCA1, 26.8% for BRCA2; p < .001) and nuclear grade (p < .001). CONCLUSIONS: The BRCA1 L63X mutation is prevalent in Japanese HBOC patients. Breast cancers with this mutation exhibit distinct characteristics in subtype and nuclear grade compared to other BRCA1/2 mutations. |
| DOI | 10.18632/oncotarget.26852 |
| PMID | 31143373 |