Publications:

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Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Ebiomedicine

Jikuya, Ryosuke R; Johnson, Todd A TA; Maejima, Kazuhiro K; An, Jisong J; Ju, Young-Seok YS; Lee, Hwajin H; Ha, Kyungsik K; Song, WooJeung W; Kim, Youngwook Y; Okawa, Yuki Y; Sasagawa, Shota S; Kanazashi, Yuki Y; Fujita, Masashi M; Imoto, Seiya S; Mitome, Taku T; Ohtake, Shinji S; Noguchi, Go G; Kawaura, Sachi S; Iribe, Yasuhiro Y; Aomori, Kota K; Tatenuma, Tomoyuki T; Komeya, Mitsuru M; Ito, Hiroki H; Ito, Yusuke Y; Muraoka, Kentaro K; Furuya, Mitsuko M; Kato, Ikuma I; Fujii, Satoshi S; Hamanoue, Haruka H; Tamura, Tomohiko T; Baba, Masaya M; Suda, Toshio T; Kodama, Tatsuhiko T; Makiyama, Kazuhide K; Yao, Masahiro M; Shuch, Brian M BM; Ricketts, Christopher J CJ; Schmidt, Laura S LS; Linehan, W Marston WM; Nakagawa, Hidewaki H; Hasumi, Hisashi H

Publication Date: 2023-05-12

Variant appearance in text: ERBB2: 3149C>T; Ser1050Leu

PubMed Link: 37182269

Variant Present in the following documents:

• mmc4.xlsx, sheet 8

View BVdb publication page

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Photodynamic therapy for malignant brain tumors in children and young adolescents.

Frontiers In Oncology

Chiba, Kentaro K; Aihara, Yasuo Y; Oda, Yuichi Y; Fukui, Atsushi A; Tsuduki, Shunsuke S; Saito, Taiichi T; Nitta, Masayuki M; Muragaki, Yoshihiro Y; Kawamata, Takakazu T

Publication Date: 2022

Variant appearance in text: ERBB2: S1050L

PubMed Link: 36505805

Variant Present in the following documents:

• Main text
• fonc-12-957267.pdf

View BVdb publication page

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Real World Characteristics and Clinical Outcomes of HER2-Mutant Non-Small Cell Lung Cancer Patients Detected by Next-Generation Sequencing.

Cancer Research And Treatment

Ahn, Beung-Chul BC; Han, Ye-Jeong YJ; Kim, Hye Ryun HR; Hong, Min Hee MH; Cho, Byoung Chul BC; Lim, Sun Min SM

Publication Date: 2022-11-09

Variant appearance in text: HER2: S1050L

PubMed Link: 36397236

Variant Present in the following documents:

• crt-2022-359.pdf

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: ERBB2: S1050L

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: ERBB2: S1050L; rs199905364

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Enhanced humoral immunity in breast cancer patients with high serum concentration of anti-HER2 autoantibody.

Cancer Medicine

Sato, Yasufumi Y; Shimoda, Masafumi M; Sota, Yoshiaki Y; Miyake, Tomohiro T; Tanei, Tomonori T; Kagara, Naofumi N; Naoi, Yasuto Y; Kim, Seung Jin SJ; Noguchi, Shinzaburo S; Shimazu, Kenzo K

Publication Date: 2021-02

Variant appearance in text: HER2: S1050L

PubMed Link: 33506656

Variant Present in the following documents:

• CAM4-10-1418.pdf

View BVdb publication page

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Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung using next-generation sequencing technique.

Thoracic Cancer

Manabe, Saki S; Kasajima, Rika R; Murakami, Shuji S; Miyagi, Yohei Y; Yokose, Tomoyuki T; Kondo, Tetsuro T; Saito, Haruhiro H; Ito, Hiroyuki H; Kaneko, Takeshi T; Yamada, Kouzo K

Publication Date: 2020-08

Variant appearance in text: ERBB2: 3149C>T; S1050L

PubMed Link: 32578376

Variant Present in the following documents:

• Main text
• TCA-11-2262.pdf
• TCA-11-2262-s003.xlsx, sheet 1

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: ERBB2: S1050L

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances

Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS

Publication Date: 2020-01

Variant appearance in text: ERBB2: S1050L

PubMed Link: 31998840

Variant Present in the following documents:

• aay2174_SM.pdf

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: ERBB2: S1050L; rs199905364

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine

Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J

Publication Date: 2019-09

Variant appearance in text: ERBB2: S1050L

PubMed Link: 31369215

Variant Present in the following documents:

• CAM4-8-5673-s008.xlsx, sheet 5

View BVdb publication page

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RTK-RAS pathway mutation is enriched in myeloid sarcoma.

Blood Cancer Journal

Choi, Mihong M; Jeon, Yoon Kyung YK; Sun, Choong-Hyun CH; Yun, Hong-Seok HS; Hong, Junshik J; Shin, Dong-Yeop DY; Kim, Inho I; Yoon, Sung-Soo SS; Koh, Youngil Y

Publication Date: 2018-05-23

Variant appearance in text: ERBB2: 3149C>T; S1050L

PubMed Link: 29789584

Variant Present in the following documents:

• Main text
• 41408_2018_83_MOESM1_ESM.pdf
• 41408_2018_Article_83.pdf

View BVdb publication page

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Therapeutic strategies and genetic profile comparisons in small cell carcinoma and large cell neuroendocrine carcinoma of the lung using next-generation sequencing.

Oncotarget

Ito, Masaoki M; Miyata, Yoshihiro Y; Hirano, Shoko S; Kimura, Shingo S; Irisuna, Fumiko F; Ikeda, Kyoko K; Kushitani, Kei K; Tsutani, Yasuhiro Y; Ueda, Daisuke D; Tsubokawa, Norifumi N; Takeshima, Yukio Y; Okada, Morihito M

Publication Date: 2017-12-12

Variant appearance in text: ERBB2: S1050L

PubMed Link: 29312580

Variant Present in the following documents:

• Main text
• oncotarget-08-108936.pdf

View BVdb publication page

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ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget

Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW

Publication Date: 2017-07-11

Variant appearance in text: ERBB2: S1050L; rs199905364

PubMed Link: 28521285

Variant Present in the following documents:

• oncotarget-08-45943-s002.xlsx, sheet 2

View BVdb publication page

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RAS-Mitogen-Activated Protein Kinase Signal Is Required for Enhanced PD-L1 Expression in Human Lung Cancers.

Plos One

Sumimoto, Hidetoshi H; Takano, Atsushi A; Teramoto, Koji K; Daigo, Yataro Y

Publication Date: 2016

Variant appearance in text: ERBB2: S1050L

PubMed Link: 27846317

Variant Present in the following documents:

• Main text
• pone.0166626.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ERBB2: 3149C>T; S1050L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Plos Genetics

Bowen, Margot E ME; Boyden, Eric D ED; Holm, Ingrid A IA; Campos-Xavier, Belinda B; Bonafé, Luisa L; Superti-Furga, Andrea A; Ikegawa, Shiro S; Cormier-Daire, Valerie V; Bovée, Judith V JV; Pansuriya, Twinkal C TC; de Sousa, Sérgio B SB; Savarirayan, Ravi R; Andreucci, Elena E; Vikkula, Miikka M; Garavelli, Livia L; Pottinger, Caroline C; Ogino, Toshihiko T; Sakai, Akinori A; Regazzoni, Bianca M BM; Wuyts, Wim W; Sangiorgi, Luca L; Pedrini, Elena E; Zhu, Mei M; Kozakewich, Harry P HP; Kasser, James R JR; Seidman, Jon G JG; Kurek, Kyle C KC; Warman, Matthew L ML

Publication Date: 2011-04

Variant appearance in text: ERBB2: S1050L

PubMed Link: 21533187

Variant Present in the following documents:

• Main text
• pgen.1002050.pdf

View BVdb publication page

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