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: EGFR: A743T

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• 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: A743T; rs759256622

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: EGFR: A743T

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: EGFR: A743T

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications

Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S

Publication Date: 2022-08-16

Variant appearance in text: EGFR: A743T

PubMed Link: 35973991

Variant Present in the following documents:

• 41467_2022_32430_MOESM17_ESM.xlsx, sheet 31

View BVdb publication page

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Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology

Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M

Publication Date: 2022

Variant appearance in text: EGFR: 2227G>A; A743T

PubMed Link: 35936718

Variant Present in the following documents:

• Table_4.xlsx, sheet 2

View BVdb publication page

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Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Bmc Medical Genomics

Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2022-06-28

Variant appearance in text: EGFR: Ala743Thr; rs759256622

PubMed Link: 35761395

Variant Present in the following documents:

• 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1
• 12920_2022_1294_MOESM5_ESM.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: A743T

PubMed Link: 35304574

Variant Present in the following documents:

• 41388_2022_Article_2263.pdf

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: EGFR: A743T

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine

Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP

Publication Date: 2021-09-06

Variant appearance in text: EGFR: A743T

PubMed Link: 34488871

Variant Present in the following documents:

• 13073_2021_958_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: EGFR: 2227G>A; A743T

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: EGFR: 2227G>A; Ala743Thr; rs759256622

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: EGFR: A743T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic profiling of somatic alterations by Oncomine Focus Assay in Korean patients with advanced gastric cancer.

Oncology Letters

Park, Joonhong J; Lee, Sang-Il SI; Shin, Soyoung S; Hong, Jang Hee JH; Yoo, Han Mo HM; Kim, Jeong Goo JG

Publication Date: 2020-11

Variant appearance in text: EGFR: 2227G>A; Ala743Thr; rs759256622

PubMed Link: 32934698

Variant Present in the following documents:

• Main text
• ol-20-05-11990.pdf

View BVdb publication page

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Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Biomedical Reports

Ye, Jun J; Lin, Mei M; Zhang, Chuanmeng C; Zhu, Xiaowei X; Li, Sumeng S; Liu, Hui H; Yin, Jianfeng J; Yu, Hong H; Zhu, Kuichun K

Publication Date: 2020-07

Variant appearance in text: EGFR: A743T

PubMed Link: 32440349

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: EGFR: 2227G>A; A743T

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: EGFR: A743T

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: EGFR: A743T

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3

View BVdb publication page

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Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Robbe, Pauline P; Popitsch, Niko N; Knight, Samantha J L SJL; Antoniou, Pavlos P; Becq, Jennifer J; He, Miao M; Kanapin, Alexander A; Samsonova, Anastasia A; Vavoulis, Dimitrios V DV; Ross, Mark T MT; Kingsbury, Zoya Z; Cabes, Maite M; Ramos, Sara D C SDC; Page, Suzanne S; Dreau, Helene H; Ridout, Kate K; Jones, Louise J LJ; Tuff-Lacey, Alice A; Henderson, Shirley S; Mason, Joanne J; Buffa, Francesca M FM; Verrill, Clare C; Maldonado-Perez, David D; Roxanis, Ioannis I; Collantes, Elena E; Browning, Lisa L; Dhar, Sunanda S; Damato, Stephen S; Davies, Susan S; Caulfield, Mark M; Bentley, David R DR; Taylor, Jenny C JC; Turnbull, Clare C; Schuh, Anna A; ,

Publication Date: 2018-10

Variant appearance in text: EGFR: 2227G>A

PubMed Link: 29388947

Variant Present in the following documents:

• EMS82826-supplement-3.xlsx, sheet 11

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Routine genetic testing of lung cancer specimens derived from surgery, bronchoscopy and fluid aspiration by next generation sequencing.

International Journal Of Oncology

Yamamoto, Gou G; Kikuchi, Mari M; Kobayashi, Shiho S; Arai, Yoshiko Y; Fujiyoshi, Kenji K; Wakatsuki, Tomokazu T; Kakuta, Miho M; Yamane, Yuki Y; Iijima, Yoshihito Y; Mizutani, Hideaki H; Nakajima, Yuki Y; Sudo, Junko J; Kinoshita, Hiroyasu H; Kurimoto, Futoshi F; Akiyama, Hirohiko H; Uramoto, Hidetaka H; Sakai, Hiroshi H; Akagi, Yoshito Y; Akagi, Kiwamu K

Publication Date: 2017-05

Variant appearance in text: EGFR: A743T

PubMed Link: 28350094

Variant Present in the following documents:

• Main text
• ijo-50-05-1579.pdf

View BVdb publication page

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: EGFR: 2227G>A; A743T

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

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Epidermal growth factor receptor (EGFR) high gene copy number and activating mutations in lung adenocarcinomas are not consistently accompanied by positivity for EGFR protein by standard immunohistochemistry.

The Journal Of Molecular Diagnostics : Jmd

Pinter, Ferenc F; Papay, Judit J; Almasi, Andrea A; Sapi, Zoltan Z; Szabo, Edit E; Kanya, Melinda M; Tamasi, Anna A; Jori, Balazs B; Varkondi, Edit E; Moldvay, Judit J; Szondy, Klara K; Keri, Gyorgy G; Dominici, Massimo M; Conte, Pierfranco P; Eckhardt, Sandor S; Kopper, Laszlo L; Schwab, Richard R; Petak, Istvan I

Publication Date: 2008-03

Variant appearance in text: EGFR: A743T

PubMed Link: 18258923

Variant Present in the following documents:

• Main text

View BVdb publication page

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