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: rs712829

PubMed Link: 36155654

Variant Present in the following documents:

• pone.0275121.s001.xlsx, sheet 7
• pone.0275121.s001.xlsx, sheet 18
• pone.0275121.s001.xlsx, sheet 3
• pone.0275121.s001.xlsx, sheet 16
• pone.0275121.s002.xlsx, sheet 3
• pone.0275121.s002.xlsx, sheet 10
• pone.0275121.s002.xlsx, sheet 6
• pone.0275121.s002.xlsx, sheet 13
• pone.0275121.s002.xlsx, sheet 19
• pone.0275121.s002.xlsx, sheet 4
• pone.0275121.s001.xlsx, sheet 2

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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: rs712829

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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The mineralocorticoid receptor leads to increased expression of EGFR and T-type calcium channels that support HL-1 cell hypertrophy.

Scientific Reports

Stroedecke, Katharina K; Meinel, Sandra S; Markwardt, Fritz F; Kloeckner, Udo U; Straetz, Nicole N; Quarch, Katja K; Schreier, Barbara B; Kopf, Michael M; Gekle, Michael M; Grossmann, Claudia C

Publication Date: 2021-06-24

Variant appearance in text: rs712829

PubMed Link: 34168192

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92284.pdf

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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: rs712829

PubMed Link: 34070597

Variant Present in the following documents:

• Main text
• ijms-22-05605.pdf

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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: rs712829

PubMed Link: 33228198

Variant Present in the following documents:

• Main text
• jpm-10-00237.pdf

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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: rs712829

PubMed Link: 32780457

Variant Present in the following documents:

• Main text

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The Roles of Common Variation and Somatic Mutation in Cancer Pharmacogenomics.

Oncology And Therapy

Chan, Hiu Ting HT; Chin, Yoon Ming YM; Low, Siew-Kee SK

Publication Date: 2019-06

Variant appearance in text: rs712829

PubMed Link: 32700193

Variant Present in the following documents:

• Main text
• 40487_2018_Article_90.pdf

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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: rs712829

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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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: rs712829

PubMed Link: 32256580

Variant Present in the following documents:

• Main text

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Understanding oncogenicity of cancer driver genes and mutations in the cancer genomics era.

Febs Letters

Porta-Pardo, Eduard E; Valencia, Alfonso A; Godzik, Adam A

Publication Date: 2020-12

Variant appearance in text: rs712829

PubMed Link: 32239503

Variant Present in the following documents:

• Main text
• FEB2-594-4233.pdf

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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: rs712829

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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Germline Variants Impact Somatic Events during Tumorigenesis.

Trends In Genetics : Tig

Ramroop, Johnny R JR; Gerber, Madelyn M MM; Toland, Amanda Ewart AE

Publication Date: 2019-07

Variant appearance in text: rs712829

PubMed Link: 31128889

Variant Present in the following documents:

• Main text

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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: rs712829

PubMed Link: 30406002

Variant Present in the following documents:

• Main text
• ACP2018-6192187.pdf

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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: rs712829

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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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: rs712829

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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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: rs712829

PubMed Link: 30011810

Variant Present in the following documents:

• Main text
• biomolecules-08-00053.pdf

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CT characteristics in pulmonary adenocarcinoma with epidermal growth factor receptor mutation.

Plos One

Zhao, Jing J; Dinkel, Julien J; Warth, Arne A; Penzel, Roland R; Reinmuth, Niels N; Schnabel, Philipp P; Muley, Thomas T; Meister, Michael M; Zabeck, Heike H; Steins, Martin M; Yang, Jian-Yong JY; Zhou, Qian Q; Schlemmer, Heinz-Peter HP; Herth, Felix J F FJF; Kauczor, Hans-Ulrich HU; Heussel, Claus Peter CP

Publication Date: 2017

Variant appearance in text: rs712829

PubMed Link: 28949965

Variant Present in the following documents:

• Main text

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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: rs712829

PubMed Link: 28915692

Variant Present in the following documents:

• Main text
• oncotarget-08-57528.pdf

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: rs712829

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: rs712829

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

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: rs712829

PubMed Link: 25699077

Variant Present in the following documents:

• Main text

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Identification of epidermal growth factor receptor (EGFR) genetic variants that modify risk for head and neck squamous cell carcinoma.

Cancer Letters

Fung, Christopher C; Zhou, Pei P; Joyce, Sonali S; Trent, Kerry K; Yuan, Jian-Min JM; Grandis, Jennifer R JR; Weissfeld, Joel L JL; Romkes, Marjorie M; Weeks, Daniel E DE; Egloff, Ann Marie AM

Publication Date: 2015-02-28

Variant appearance in text: rs712829

PubMed Link: 25511740

Variant Present in the following documents:

• Main text

View BVdb publication page

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EGF and EGFR genetic polymorphisms predict prognosis in locally advanced pharyngolaryngeal squamous cell carcinoma patients receiving postoperative concurrent chemoradiotherapy.

Oncotargets And Therapy

Su, Nai-Wen NW; Leu, Yi-Shing YS; Lee, Jehn-Chuan JC; Liu, Chung-Ji CJ; Cheng, Chieh-Yuan CY; Lin, Jiun-Sheng JS; Chen, Yu-Jen YJ; Chen, Chi-Kuan CK; Fang, I-Chih IC; Hsieh, Ruey-Kuen RK; Chang, Yi-Fang YF

Publication Date: 2014

Variant appearance in text: rs712829

PubMed Link: 25506224

Variant Present in the following documents:

• Main text
• ott-7-2197.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: rs712829

PubMed Link: 24819665

Variant Present in the following documents:

• Main text
• srep04893.pdf

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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: rs712829

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: rs712829

PubMed Link: 24629097

Variant Present in the following documents:

• Main text
• 1471-2407-14-190.pdf

View BVdb publication page

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Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Plos One

Egan, Jan B JB; Barrett, Michael T MT; Champion, Mia D MD; Middha, Sumit S; Lenkiewicz, Elizabeth E; Evers, Lisa L; Francis, Princy P; Schmidt, Jessica J; Shi, Chang-Xin CX; Van Wier, Scott S; Badar, Sandra S; Ahmann, Gregory G; Kortuem, K Martin KM; Boczek, Nicole J NJ; Fonseca, Rafael R; Craig, David W DW; Carpten, John D JD; Borad, Mitesh J MJ; Stewart, A Keith AK

Publication Date: 2014

Variant appearance in text: rs712829

PubMed Link: 24505276

Variant Present in the following documents:

• pone.0087113.s004.xls, sheet 1

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-216G/T (rs712829), a functional variant of the EGFR promoter, is associated with the pleural metastasis of lung adenocarcinoma.

Oncology Letters

Guo, Haisheng H; Xing, Yunhui Y; Liu, Ruibao R; Chen, Shaoping S; Bian, Xia X; Wang, Fang F; Yang, Chunmei C; Wang, Xunguo X

Publication Date: 2013-09

Variant appearance in text: rs712829

PubMed Link: 24137392

Variant Present in the following documents:

• Main text

View BVdb publication page

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PharmGKB summary: very important pharmacogene information for the epidermal growth factor receptor.

Pharmacogenetics And Genomics

Hodoglugil, Ugur U; Carrillo, Michelle W MW; Hebert, Joan M JM; Karachaliou, Niki N; Rosell, Rafael C RC; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2013-11

Variant appearance in text: rs712829

PubMed Link: 23962910

Variant Present in the following documents:

• Main text

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: rs712829

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: rs712829

PubMed Link: 23514947

Variant Present in the following documents:

• Main text

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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: rs712829

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: rs712829

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: rs712829

PubMed Link: 22117530

Variant Present in the following documents:

• Main text
• 1471-2407-11-496.pdf

View BVdb publication page

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Functional EGFR germline polymorphisms may confer risk for EGFR somatic mutations in non-small cell lung cancer, with a predominant effect on exon 19 microdeletions.

Cancer Research

Liu, Wanqing W; He, Lijun L; Ramírez, Jacqueline J; Krishnaswamy, Soundararajan S; Kanteti, Rajani R; Wang, Yi-Ching YC; Salgia, Ravi R; Ratain, Mark J MJ

Publication Date: 2011-04-01

Variant appearance in text: rs712829

PubMed Link: 21292812

Variant Present in the following documents:

• Main text

View BVdb publication page

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A two-stage case-control study of EGFR polymorphisms and breast cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Hong, Young-Seoub YS; Deming, Sandra L SL; Gao, Yu-Tang YT; Long, Ji-Rong JR; Shu, Xiao-Ou XO; Cai, Qiuyin Q; Lu, Wei W; Zheng, Wei W

Publication Date: 2009-02

Variant appearance in text: rs712829

PubMed Link: 19190167

Variant Present in the following documents:

• Main text

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: rs712829

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: rs712829

PubMed Link: 17956637

Variant Present in the following documents:

• Main text
• 1471-2407-7-199.pdf

View BVdb publication page

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