Publications:

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New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One

Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D

Publication Date: 2022

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 36155654

Variant Present in the following documents:

• pone.0275121.s002.xlsx, sheet 3
• pone.0275121.s002.xlsx, sheet 13
• pone.0275121.s002.xlsx, sheet 10
• pone.0275121.s001.xlsx, sheet 18
• pone.0275121.s001.xlsx, sheet 3

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Frontiers In Oncology

Klemke, Luisa L; Fehlau, Clara F CF; Winkler, Nadine N; Toboll, Felicia F; Singh, Shiv K SK; Moll, Ute M UM; Schulz-Heddergott, Ramona R

Publication Date: 2021

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 34178628

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Polymorphisms in EGFR Gene Predict Clinical Outcome in Unresectable Non-Small Cell Lung Cancer Treated with Radiotherapy and Platinum-Based Chemoradiotherapy.

International Journal Of Molecular Sciences

Butkiewicz, Dorota D; Krześniak, Małgorzata M; Gdowicz-Kłosok, Agnieszka A; Giglok, Monika M; Marszałek-Zeńczak, Małgorzata M; Suwiński, Rafał R

Publication Date: 2021-05-25

Variant appearance in text: rs712830

PubMed Link: 34070597

Variant Present in the following documents:

• Main text
• ijms-22-05605.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs712830

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

Journal Of Personalized Medicine

Simões, Ana Rita AR; Fernández-Rozadilla, Ceres C; Maroñas, Olalla O; Carracedo, Ángel Á

Publication Date: 2020-11-19

Variant appearance in text: rs712830

PubMed Link: 33228198

Variant Present in the following documents:

• Main text
• jpm-10-00237.pdf

View BVdb publication page

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Pharmacogenetics for severe adverse drug reactions induced by molecular-targeted therapy.

Cancer Science

Udagawa, Chihiro C; Zembutsu, Hitoshi H

Publication Date: 2020-10

Variant appearance in text: rs712830

PubMed Link: 32780457

Variant Present in the following documents:

• Main text
• CAS-111-3445.pdf

View BVdb publication page

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Germline and Somatic Pharmacogenomics to Refine Rectal Cancer Patients Selection for Neo-Adjuvant Chemoradiotherapy.

Frontiers In Pharmacology

De Mattia, Elena E; Roncato, Rossana R; Palazzari, Elisa E; Toffoli, Giuseppe G; Cecchin, Erika E

Publication Date: 2020

Variant appearance in text: rs712830

PubMed Link: 32625092

Variant Present in the following documents:

• Main text
• fphar-11-00897.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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EGFR Polymorphism and Survival of NSCLC Patients Treated with TKIs: A Systematic Review and Meta-Analysis.

Journal Of Oncology

Jurisic, Vladimir V; Vukovic, Vladimir V; Obradovic, Jasmina J; Gulyaeva, Lyudmila F LF; Kushlinskii, Nikolay E NE; Djordjević, Nataša N

Publication Date: 2020

Variant appearance in text: rs712830

PubMed Link: 32256580

Variant Present in the following documents:

• Main text
• JO2020-1973241.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Association of EGFR 1 Gene Alteration and their Association with Lung Adenocarcinoma Patients

Asian Pacific Journal Of Cancer Prevention : Apjcp

Ali Beg, Mirza Masroor MM; Fahdil, Samer Riyadh SR; Yadav, Prasant P; Shukla, Kamla kant KK; Mohan, Anant A; Saxena, Alpana A

Publication Date: 2019-03-26

Variant appearance in text: rs712830

PubMed Link: 30912007

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidermal Growth Factor Receptor Gene in Non-Small-Cell Lung Cancer: The Importance of Promoter Polymorphism Investigation.

Analytical Cellular Pathology (Amsterdam)

Jurišić, Vladimir V; Obradovic, Jasmina J; Pavlović, Sonja S; Djordjevic, Nataša N

Publication Date: 2018

Variant appearance in text: rs712830

PubMed Link: 30406002

Variant Present in the following documents:

• Main text
• ACP2018-6192187.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: EGFR: -191A>C; rs712830

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs712830

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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The Association between Epidermal Growth Factor Receptor (EGFR) Gene Polymorphisms and Lung Cancer Risk.

Biomolecules

Bashir, Nabil A NA; Ragab, Entesar S ES; Khabour, Omar F OF; Khassawneh, Basheer Y BY; Alfaqih, Mahmoud A MA; Momani, Jafar A JA

Publication Date: 2018-07-13

Variant appearance in text: rs712830

PubMed Link: 30011810

Variant Present in the following documents:

• Main text
• biomolecules-08-00053.pdf

View BVdb publication page

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Biomarker analysis of the phase 3 TORCH trial for first line erlotinib versus chemotherapy in advanced non-small cell lung cancer patients.

Oncotarget

Kim, Lucia L; Saieg, Mauro M; Di Maio, Massimo M; Gallo, Ciro C; Butts, Charles C; Ciardiello, Fortunato F; Feld, Ronald R; Cheng, Dengxiao D; Gebbia, Vittorio V; Burgio, Marco Angelo MA; Alam, Yasmin Y; Signoriello, Simona S; Rossi, Antonio A; Leighl, Natasha N; Maione, Paolo P; Morabito, Alessandro A; Liu, Geoffrey G; Tsao, Ming-Sound MS; Perrone, Francesco F; Gridelli, Cesare C

Publication Date: 2017-08-22

Variant appearance in text: rs712830

PubMed Link: 28915692

Variant Present in the following documents:

• Main text
• oncotarget-08-57528.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs712830

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs712830

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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ErbB polymorphisms: insights and implications for response to targeted cancer therapeutics.

Frontiers In Genetics

Alaoui-Jamali, Moulay A MA; Morand, Grégoire B GB; da Silva, Sabrina Daniela SD

Publication Date: 2015

Variant appearance in text: rs712830

PubMed Link: 25699077

Variant Present in the following documents:

• Main text
• fgene-06-00017.pdf

View BVdb publication page

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Epidermal growth factor receptor (EGFR) pathway genes and interstitial lung disease: an association study.

Scientific Reports

Li, Chong C; Wei, Rongrong R; Jones-Hall, Yava L YL; Vittal, Ragini R; Zhang, Min M; Liu, Wanqing W

Publication Date: 2014-05-13

Variant appearance in text: rs712830

PubMed Link: 24819665

Variant Present in the following documents:

• Main text
• srep04893.pdf

View BVdb publication page

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Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study.

British Journal Of Cancer

Etienne-Grimaldi, M-C MC; Mahamat, A A; Chazal, M M; Laurent-Puig, P P; Olschwang, S S; Gaub, M-P MP; Formento, J-L JL; Formento, P P; Sudaka, A A; Boige, V V; Abderrahim-Ferkoune, A A; Benchimol, D D; André, T T; Houry, S S; Faucheron, J-L JL; Letoublon, C C; Gilly, F-N FN; Delpero, J-R JR; Lasser, P P; Pradere, B B; Pezet, D D; Penault-Llorca, F F; Milano, G G

Publication Date: 2014-05-27

Variant appearance in text: rs712830

PubMed Link: 24800948

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidermal growth factor receptor gene polymorphisms are associated with prognostic features of breast cancer.

Bmc Cancer

Leite, Marcelo Sobral MS; Giacomin, Letícia Carlos LC; Piranda, Diogo Nascimento DN; Festa-Vasconcellos, Juliana Simões JS; Indio-do-Brasil, Vanessa V; Koifman, Sérgio S; de Moura-Neto, Rodrigo Soares RS; de Carvalho, Marcelo Alex MA; Vianna-Jorge, Rosane R

Publication Date: 2014-03-14

Variant appearance in text: rs712830

PubMed Link: 24629097

Variant Present in the following documents:

• Main text
• 1471-2407-14-190.pdf

View BVdb publication page

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Genetic variations in EGFR and ERBB4 increase susceptibility to cervical cancer.

Gynecologic Oncology

Ma, Duanduan D; Hovey, Raymond L RL; Zhang, Zhengyan Z; Fye, Samantha S; Huettner, Phyllis C PC; Borecki, Ingrid B IB; Rader, Janet S JS

Publication Date: 2013-11

Variant appearance in text: rs712830

PubMed Link: 23927961

Variant Present in the following documents:

• Main text

View BVdb publication page

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[Effects of EGFR gene polymorphisms on efficacy and prognosis in advanced non-small cell lung cancer treated with EGFR-TKIs].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

Da, Liangshan L; Xu, Lin L

Publication Date: 2013-03

Variant appearance in text: rs712830

PubMed Link: 23514947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in intron 1 of the EGFR gene in non-small cell lung cancer patients.

Experimental And Therapeutic Medicine

Shitara, Masayuki M; Sasaki, Hidefumi H; Yokota, Keisuke K; Okuda, Katsuhiro K; Hikosaka, Yu Y; Moriyama, Satoru S; Yano, Motoki M; Kawaguchi, Tomoya T; Kubo, Akihito A; Takada, Minoru M; Kitahara, Naoto N; Okumura, Meinoshin M; Matsumura, Akihide A; Iuchi, Keiji K; Fujii, Yoshitaka Y

Publication Date: 2012-11

Variant appearance in text: rs712830

PubMed Link: 23226726

Variant Present in the following documents:

• Main text
• etm-04-05-0785.pdf

View BVdb publication page

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Multifactorial pharmacogenetic analysis in colorectal cancer patients receiving 5-fluorouracil-based therapy together with cetuximab-irinotecan.

British Journal Of Clinical Pharmacology

Etienne-Grimaldi, Marie-Christine MC; Bennouna, Jaafar J; Formento, Jean-Louis JL; Douillard, Jean-Yves JY; Francoual, Mireille M; Hennebelle, Isabelle I; Chatelut, Etienne E; Francois, Eric E; Faroux, Roger R; El Hannani, Chaza C; Jacob, Jacques-Henri JH; Milano, Gérard G

Publication Date: 2012-05

Variant appearance in text: rs712830

PubMed Link: 22486600

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenetic profiling and cetuximab outcome in patients with advanced colorectal cancer.

Bmc Cancer

Dahan, Laetitia L; Norguet, Emmanuelle E; Etienne-Grimaldi, Marie-Christine MC; Formento, Jean-Louis JL; Gasmi, Mohamed M; Nanni, Isabelle I; Gaudart, Jean J; Garcia, Stéphane S; Ouafik, L'Houcine L; Seitz, Jean-François JF; Milano, Gérard G

Publication Date: 2011-11-25

Variant appearance in text: rs712830

PubMed Link: 22117530

Variant Present in the following documents:

• Main text
• 1471-2407-11-496.pdf

View BVdb publication page

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Pharmacogenomic and pharmacokinetic determinants of erlotinib toxicity.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Rudin, Charles M CM; Liu, Wanqing W; Desai, Apurva A; Karrison, Theodore T; Jiang, Xuemin X; Janisch, Linda L; Das, Soma S; Ramirez, Jacqueline J; Poonkuzhali, Balasubramanian B; Schuetz, Erin E; Fackenthal, Donna Lee DL; Chen, Peixian P; Armstrong, Deborah K DK; Brahmer, Julie R JR; Fleming, Gini F GF; Vokes, Everett E EE; Carducci, Michael A MA; Ratain, Mark J MJ

Publication Date: 2008-03-01

Variant appearance in text: rs712830

PubMed Link: 18309947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.

Bmc Cancer

Choi, Jin Eun JE; Park, Sun Ha SH; Kim, Kyung Mee KM; Lee, Won Kee WK; Kam, Sin S; Cha, Sung Ick SI; Kim, Chang Ho CH; Kang, Young Mo YM; Kim, Young-Chul YC; Han, Sung Beom SB; Jung, Tae Hoon TH; Park, Jae Yong JY

Publication Date: 2007-10-24

Variant appearance in text: rs712830

PubMed Link: 17956637

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidermal growth factor receptor (EGFR) is transcriptionally induced by the Y-box binding protein-1 (YB-1) and can be inhibited with Iressa in basal-like breast cancer, providing a potential target for therapy.

Breast Cancer Research : Bcr

Stratford, Anna L AL; Habibi, Golareh G; Astanehe, Arezoo A; Jiang, Helen H; Hu, Kaiji K; Park, Eugene E; Shadeo, Ashleen A; Buys, Timon P H TP; Lam, Wan W; Pugh, Trevor T; Marra, Marco M; Nielsen, Torsten O TO; Klinge, Uwe U; Mertens, Peter R PR; Aparicio, Samuel S; Dunn, Sandra E SE

Publication Date: 2007

Variant appearance in text: rs712830

PubMed Link: 17875215

Variant Present in the following documents:

• Main text
• bcr1767.pdf
• bcr1767-S2.pdf

View BVdb publication page

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