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Title: Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
Authors: Inagaki-Kawata, Yukiko
Yoshida, Kenichi
Kawaguchi-Sakita, Nobuko
Kawashima, Masahiro
Nishimura, Tomomi
Senda, Noriko
Shiozawa, Yusuke
Takeuchi, Yasuhide
Inoue, Yoshikage
Sato-Otsubo, Aiko
Fujii, Yoichi
Nannya, Yasuhito
Suzuki, Eiji
Takada, Masahiro
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
Author's alias: 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
Keywords: Breast cancer
Cancer genetics
Issue Date: 16-Oct-2020
Publisher: Springer Nature
Journal title: Communications Biology
Volume: 3
Thesis number: 578
Abstract: 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.
Description: 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.
Rights: © 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
DOI(Published Version): 10.1038/s42003-020-01301-9
PubMed ID: 33067557
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