Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs78244461

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 4

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: EGFR: A1048V; rs78244461

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population.

Scientific Reports

Baek, In Ki IK; Cheong, Hyun Sub HS; Namgoong, Seok S; Kim, Jeong-Hyun JH; Kang, Seok-Gu SG; Yoon, Seon-Jin SJ; Kim, Se Hoon SH; Chang, Jong Hee JH; Kim, Lyoung Hyo LH; Shin, Hyoung Doo HD

Publication Date: 2022-11-08

Variant appearance in text: EGFR: A1048V; rs78244461

PubMed Link: 36347915

Variant Present in the following documents:

• Main text
• 41598_2022_Article_23217.pdf

View BVdb publication page

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Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing.

Journal Of Pathology And Translational Medicine

Lee, Jeonghyo J; Han, Yeon Bi YB; Kwon, Hyun Jung HJ; Lee, Song Kook SK; Kim, Hyojin H; Chung, Jin-Haeng JH

Publication Date: 2022-09

Variant appearance in text: EGFR: 3143C>T; A1048V

PubMed Link: 36128861

Variant Present in the following documents:

• jptm-2022-06-11.pdf
• jptm-2022-06-11-suppl9.pdf

View BVdb publication page

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Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Frontiers In Oncology

Kim, Junhyung J; Hwang, Kihwan K; Kwon, Hyun Jung HJ; Lee, Ji Eun JE; Lee, Kyu Sang KS; Choe, Gheeyoung G; Han, Jung Ho JH; Kim, Chae-Yong CY

Publication Date: 2022

Variant appearance in text: EGFR: 3143C>T; A1048V; rs78244461

PubMed Link: 35774130

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 2

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: EGFR: 3143C>T; A1048V

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Preclinical assessment of combination therapy of EGFR tyrosine kinase inhibitors in a highly heterogeneous tumor model.

Oncogene

Ikeuchi, Hiroshi H; Hirose, Takeshi T; Ikegami, Masachika M; Takamochi, Kazuya K; Suzuki, Kenji K; Mano, Hiroyuki H; Kohsaka, Shinji S

Publication Date: 2022-04

Variant appearance in text: EGFR: A1048V

PubMed Link: 35304574

Variant Present in the following documents:

• 41388_2022_Article_2263.pdf

View BVdb publication page

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Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.

Frontiers In Oncology

Jiang, Haiping H; Wang, Yinan Y; Xu, Hanlin H; Lei, Wei W; Yu, Xiaoyun X; Tian, Haiying H; Meng, Cong C; Wang, Xueying X; Zhao, Zicheng Z; Jin, Xiangfeng X

Publication Date: 2021

Variant appearance in text: EGFR: A1048V; rs78244461

PubMed Link: 35186718

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: EGFR: A1048V; rs78244461

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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Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International

Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M

Publication Date: 2020

Variant appearance in text: EGFR: 3143C>T; A1048V; rs78244461

PubMed Link: 32489320

Variant Present in the following documents:

• 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine

Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J

Publication Date: 2020-02-18

Variant appearance in text: EGFR: A1048V

PubMed Link: 32070411

Variant Present in the following documents:

• 13073_2020_717_MOESM4_ESM.xlsx, sheet 1

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: EGFR: A1048V; rs78244461

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: EGFR: A1048V

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 50

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: EGFR: 3143C>T

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1
• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic sequencing detects important genetic differences between right-sided and left-sided colorectal cancer.

Oncotarget

Shimada, Yoshifumi Y; Kameyama, Hitoshi H; Nagahashi, Masayuki M; Ichikawa, Hiroshi H; Muneoka, Yusuke Y; Yagi, Ryoma R; Tajima, Yosuke Y; Okamura, Takuma T; Nakano, Masato M; Sakata, Jun J; Kobayashi, Takashi T; Nogami, Hitoshi H; Maruyama, Satoshi S; Takii, Yasumasa Y; Hayashida, Tetsu T; Takaishi, Hiromasa H; Kitagawa, Yuko Y; Oki, Eiji E; Konishi, Tsuyoshi T; Ishida, Fumio F; Kudo, Shin-Ei SE; Ring, Jennifer E JE; Protopopov, Alexei A; Lyle, Stephen S; Ling, Yiwei Y; Okuda, Shujiro S; Ishikawa, Takashi T; Akazawa, Kohei K; Takabe, Kazuaki K; Wakai, Toshifumi T

Publication Date: 2017-11-07

Variant appearance in text: EGFR: A1048V

PubMed Link: 29212173

Variant Present in the following documents:

• oncotarget-08-93567-s003.xlsx, sheet 1

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: EGFR: A1048V; rs78244461

PubMed Link: 28521285

Variant Present in the following documents:

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

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: EGFR: A1048V; rs78244461

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One

Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO

Publication Date: 2011

Variant appearance in text: EGFR: A1048V

PubMed Link: 21701589

Variant Present in the following documents:

• Main text
• pone.0021097.s002.xls, sheet 4
• pone.0021097.pdf

View BVdb publication page

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