number of access : ?
number of downloads : ?
ID 114815
Author
Momozawa, Yukihide RIKEN
Iwasaki, Yusuke RIKEN
Parsons, Michael T. QIMR Berghofer Medical Research Institute
Kamatani, Yoichiro RIKEN
Takahashi, Atsushi RIKEN|National Cerebral and Cardiovascular Center
Tamura, Chieko FMC Tokyo Clinic
Yoshida, Teruhiko National Cancer Center
Nakamura, Seigo Showa University
Sugano, Kokichi National Cancer Center|Tochigi Cancer Center
Miki, Yoshio Tokyo Medical and Dental University
Hirata, Makoto National Cancer Center|The University of Tokyo
Matsuda, Koichi The University of Tokyo
Spurdle, Amanda B. QIMR Berghofer Medical Research Institute
Kubo, Michiaki RIKEN
Content Type
Journal Article
Description
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.
Journal Title
Nature Communications
ISSN
20411723
NCID
AA12645905
Publisher
Springer Nature
Volume
9
Start Page
4083
Published Date
2018-10-04
Remark
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
Rights
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
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Institute of Advanced Medical Sciences