| Item type |
文献 / Documents(1) |
| 公開日 |
2020-12-25 |
| アクセス権 |
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アクセス権 |
open access |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 出版社版DOI |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1038/s41467-018-06581-8 |
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言語 |
ja |
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|
関連名称 |
10.1038/s41467-018-06581-8 |
| 出版タイプ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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タイトル |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls |
|
言語 |
en |
| 著者 |
モモザワ, ユキヒデ
イワサキ, ユウスケ
Parsons, Michael T.
カマタニ, ヨウイチロウ
タカハシ, アツシ
タムラ, チエコ
片桐, 豊雅
ヨシダ, テルヒコ
ナカムラ, セイゴ
スガノ, コウキチ
ミキ, ヨシオ
ヒラタ, マコト
マツダ, コウイチ
Spurdle, Amanda B.
クボ, ミチアキ
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| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Pathogenic variants are found in 5.7% of patients, ranging from 15% in women diagnosed <40 years to 3.2% in patients ≥80 years, with BRCA1/2, explaining two-thirds of pathogenic variants identified at all ages. BRCA1/2, PALB2, and TP53 are significant causative genes. Patients with pathogenic variants in BRCA1/2 or PTEN have significantly younger age at diagnosis. In conclusion, BRCA1/2, PALB2, and TP53 are the major hereditary breast cancer genes, irrespective of age at diagnosis, in Japanese women. |
|
言語 |
en |
| 書誌情報 |
en : Nature Communications
巻 9,
p. 4083,
発行日 2018-10-04
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
20411723 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA12645905 |
| 出版者 |
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|
出版者 |
Springer Nature |
|
言語 |
en |
| 備考 |
|
|
言語 |
ja |
|
値 |
所属英表記誤記あり
(誤)National Cancer Centre→(正)National Cancer Center
(誤)Tochigi Cancer Centre→(正)Tochigi Cancer Center |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
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/.
© The Author(s) 2018 |
| EID |
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|
識別子 |
346449 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
ncomms_9_4083.pdf (985 KB)
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