Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: EGFR: 2582T>C; Leu861Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: L861P

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 4
• Table3.xlsx, sheet 1

View BVdb publication page

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Betacellulin promotes tumor development and EGFR mutant lung cancer growth by stimulating the EGFR pathway and suppressing apoptosis.

Iscience

Chava, Suresh S; Bugide, Suresh S; Zhang, Xuchen X; Gupta, Romi R; Wajapeyee, Narendra N

Publication Date: 2022-05-20

Variant appearance in text: rs121913444

PubMed Link: 35494243

Variant Present in the following documents:

• mmc2.xls, 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: L861P

PubMed Link: 35304574

Variant Present in the following documents:

• 41388_2022_Article_2263.pdf

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: EGFR: L861P

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12

View BVdb publication page

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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer

Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J

Publication Date: 2022-02

Variant appearance in text: EGFR: Leu861Pro

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: EGFR: 2582T>C; Leu861Pro

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1
• ct9-12-e00431-s006.xlsx, sheet 1

View BVdb publication page

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Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction.

Nature Communications

Lin, Yuan Y; Luo, Yingying Y; Sun, Yanxia Y; Guo, Wenjia W; Zhao, Xuan X; Xi, Yiyi Y; Ma, Yuling Y; Shao, Mingming M; Tan, Wen W; Gao, Ge G; Wu, Chen C; Lin, Dongxin D

Publication Date: 2020-11-30

Variant appearance in text: EGFR: L861P

PubMed Link: 33257699

Variant Present in the following documents:

• 41467_2020_19949_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913444

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

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: L861P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Intrinsic resistance to EGFR-Tyrosine Kinase Inhibitors in EGFR-Mutant Non-Small Cell Lung Cancer: Differences and Similarities with Acquired Resistance.

Cancers

Santoni-Rugiu, Eric E; Melchior, Linea C LC; Urbanska, Edyta M EM; Jakobsen, Jan N JN; Stricker, Karin de K; Grauslund, Morten M; Sørensen, Jens B JB

Publication Date: 2019-07-01

Variant appearance in text: EGFR: L861P

PubMed Link: 31266248

Variant Present in the following documents:

• Main text
• cancers-11-00923.pdf

View BVdb publication page

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Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma.

Bmc Cancer

Loriguet, Lea L; Morisse, Mony Chenda MC; Dremaux, Julie J; Collet, Louison L; Attencourt, Christophe C; Coutte, Alexandre A; Boone, Mathieu M; Sevestre, Henri H; Galmiche, Antoine A; Gubler, Brigitte B; Chauffert, Bruno B; Trudel, Stephanie S

Publication Date: 2018-10-11

Variant appearance in text: rs121913444

PubMed Link: 30305059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: EGFR: L861P

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 3

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: L861P

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 1

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Clinical Analysis of Uncommon Epidermal Growth Factor Receptor Mutations in 16 Cases of Nonsmall Cell Lung Cancer.

Chinese Medical Journal

Hu, Ai-Min AM; Li, Yun-Song YS; Zhao, Dan D; Hu, Fan-Bin FB; Wang, Qun-Hui QH; Li, Bao-Lan BL

Publication Date: 2018-04-20

Variant appearance in text: EGFR: L861P

PubMed Link: 29664067

Variant Present in the following documents:

• CMJ-131-1005.pdf

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Lung adenocarcinoma patients of young age have lower EGFR mutation rate and poorer efficacy of EGFR tyrosine kinase inhibitors.

Erj Open Research

Wu, Shang-Gin SG; Chang, Yih-Leong YL; Yu, Chong-Jen CJ; Yang, Pan-Chyr PC; Shih, Jin-Yuan JY

Publication Date: 2017-07

Variant appearance in text: EGFR: L861P

PubMed Link: 28717642

Variant Present in the following documents:

• Main text

View BVdb publication page

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The percentage of Epidermal Growth Factor Receptor (EGFR)-mutated neoplastic cells correlates to response to tyrosine kinase inhibitors in lung adenocarcinoma.

Plos One

de Biase, Dario D; Genestreti, Giovenzio G; Visani, Michela M; Acquaviva, Giorgia G; Di Battista, Monica M; Cavallo, Giovanna G; Paccapelo, Alexandro A; Cancellieri, Alessandra A; Trisolini, Rocco R; Degli Esposti, Roberta R; Bartolini, Stefania S; Pession, Annalisa A; Tallini, Giovanni G; Brandes, Alba A AA

Publication Date: 2017

Variant appearance in text: EGFR: 2582T>C; L861P

PubMed Link: 28520821

Variant Present in the following documents:

• Main text
• pone.0177822.pdf

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: rs121913444

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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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: rs121913444

PubMed Link: 27060149

Variant Present in the following documents:

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

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs121913444

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: EGFR: L861P

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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DNA-Mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): a catalog of clinically relevant cancer mutations to enable genome-directed anticancer therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Yeh, Paul P; Chen, Heidi H; Andrews, Jenny J; Naser, Riyad R; Pao, William W; Horn, Leora L

Publication Date: 2013-04-01

Variant appearance in text: EGFR: L861P

PubMed Link: 23344264

Variant Present in the following documents:

• Main text

View BVdb publication page

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[Clinical observation of EGFR-TKI as a first-line therapy on advanced non-small cell lung cancer].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

Li, Jianjie J; Qu, Lili L; Wei, Xing X; Gao, Hongjun H; Wang, Weixia W; Qin, Haifeng H; Tang, Chuanhao C; Guo, Wanfeng W; Wang, Hong H; Liu, Xiaoqing X

Publication Date: 2012-05

Variant appearance in text: EGFR: L861P

PubMed Link: 22613337

Variant Present in the following documents:

• Main text
• zgfazz-15-5-299.pdf

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Co-conserved features associated with cis regulation of ErbB tyrosine kinases.

Plos One

Mirza, Amar A; Mustafa, Morad M; Talevich, Eric E; Kannan, Natarajan N

Publication Date: 2010-12-13

Variant appearance in text: EGFR: L861P

PubMed Link: 21179209

Variant Present in the following documents:

• Main text
• pone.0014310.pdf

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'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.

British Journal Of Cancer

Pallis, A G AG; Voutsina, A A; Kalikaki, Ar A; Souglakos, J J; Briasoulis, E E; Murray, S S; Koutsopoulos, A A; Tripaki, M M; Stathopoulos, E E; Mavroudis, D D; Georgoulias, V V

Publication Date: 2007-12-03

Variant appearance in text: EGFR: L861P

PubMed Link: 18000506

Variant Present in the following documents:

• Main text
• 6604068a.pdf

View BVdb publication page

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