EGFR c.1498+22A>T

Variant ID: 7-55228053-A-T

NM_005228.3(EGFR):c.1498+22A>T

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1558544
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs1558544
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Machine learning random forest for predicting oncosomatic variant NGS analysis.

Scientific Reports
Pellegrino, Eric E; Jacques, Coralie C; Beaufils, Nathalie N; Nanni, Isabelle I; Carlioz, Antoine A; Metellus, Philippe P; Ouafik, L'Houcine L
Publication Date: 2021-11-08

Variant appearance in text: EGFR: 1498+22A>T
PubMed Link: 34750410
Variant Present in the following documents:
  • 41598_2021_1253_MOESM1_ESM.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1558544
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: EGFR: 1498+22A>T
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



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: 1498+22A>T; rs1558544
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs1558544
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs1558544
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine
Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E
Publication Date: 2019-06

Variant appearance in text: EGFR: 1498+22A>T
PubMed Link: 31056474
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



GOG 8020/210: Risk stratification of lymph node metastasis, disease progression and survival using single nucleotide polymorphisms in endometrial cancer: An NRG oncology/gynecologic oncology group study.

Gynecologic Oncology
Brooks, Rebecca A RA; Tritchler, David S DS; Darcy, Kathleen M KM; Lankes, Heather A HA; Salani, Ritu R; Sperduto, Paul P; Guntupalli, Saketh S; DiSilvestro, Paul P; Kesterson, Joshua J; Olawaiye, Alexander B AB; Moxley, Katherine K; Waggoner, Steven S; Santin, Alessandro A; Rader, Janet S JS; Kizer, Nora T NT; Thaker, Premal H PH; Powell, Matthew A MA; Mutch, David G DG; Birrer, Michael J MJ; Goodfellow, Paul J PJ
Publication Date: 2019-05

Variant appearance in text: rs1558544
PubMed Link: 30827726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: EGFR: 1498+22A>T
PubMed Link: 30794603
Variant Present in the following documents:
  • pone.0212370.s008.xlsx, sheet 1
View BVdb publication page



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: 1498+22A>T; rs1558544
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: rs1558544
PubMed Link: 30305059
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_4873.pdf
View BVdb publication page



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: rs1558544
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Effective treatment of a platinum-resistant cutaneous squamous cell carcinoma case by EGFR pathway inhibition.

Molecular And Clinical Oncology
Capalbo, Carlo C; Belardinilli, Francesca F; Filetti, Marco M; Parisi, Claudia C; Petroni, Marialaura M; Colicchia, Valeria V; Tessitore, Alessandra A; Santoni, Matteo M; Coppa, Anna A; Giannini, Giuseppe G; Marchetti, Paolo P
Publication Date: 2018-07

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 29977536
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1558544
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

British Journal Of Cancer
de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD
Publication Date: 2017-06-06

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 28524158
Variant Present in the following documents:
  • bjc2017147x1.pdf
View BVdb publication page



ATM mutations and E-cadherin expression define sensitivity to EGFR-targeted therapy in colorectal cancer.

Oncotarget
Geißler, Anna-Lena AL; Geißler, Miriam M; Kottmann, Daniel D; Lutz, Lisa L; Fichter, Christiane D CD; Fritsch, Ralph R; Weddeling, Britta B; Makowiec, Frank F; Werner, Martin M; Lassmann, Silke S
Publication Date: 2017-03-07

Variant appearance in text: rs1558544
PubMed Link: 28199979
Variant Present in the following documents:
  • Main text
  • oncotarget-08-17164.pdf
View BVdb publication page



Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

Bmc Cancer
Bonfiglio, Silvia S; Vanni, Irene I; Rossella, Valeria V; Truini, Anna A; Lazarevic, Dejan D; Dal Bello, Maria Giovanna MG; Alama, Angela A; Mora, Marco M; Rijavec, Erika E; Genova, Carlo C; Cittaro, Davide D; Grossi, Francesco F; Coco, Simona S
Publication Date: 2016-08-30

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 27578032
Variant Present in the following documents:
  • Main text
  • 12885_2016_2720_MOESM3_ESM.xlsx, sheet 2
  • 12885_2016_Article_2720.pdf
View BVdb publication page



Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform.

International Journal Of Molecular Sciences
Vanni, Irene I; Coco, Simona S; Truini, Anna A; Rusmini, Marta M; Dal Bello, Maria Giovanna MG; Alama, Angela A; Banelli, Barbara B; Mora, Marco M; Rijavec, Erika E; Barletta, Giulia G; Genova, Carlo C; Biello, Federica F; Maggioni, Claudia C; Grossi, Francesco F
Publication Date: 2015-12-03

Variant appearance in text: EGFR: 1498+22A>T; rs1558544
PubMed Link: 26633390
Variant Present in the following documents:
  • ijms-16-26129-s001.xls, sheet 2
  • ijms-16-26129-s001.xls, sheet 4
View BVdb publication page



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: rs1558544
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology
Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H
Publication Date: 2015-07

Variant appearance in text: rs1558544
PubMed Link: 25789707
Variant Present in the following documents:
  • NIHMS670893-supplement-01.pdf
View BVdb publication page



Epidermal growth factor receptor (EGFR) polymorphisms and breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study.

International Journal Of Molecular Epidemiology And Genetics
Connor, Avonne E AE; Baumgartner, Richard N RN; Baumgartner, Kathy B KB; Pinkston, Christina M CM; John, Esther M EM; Torres-Mejía, Gabriela G; Hines, Lisa M LM; Giuliano, Anna R AR; Wolff, Roger K RK; Slattery, Martha L ML
Publication Date: 2013

Variant appearance in text: rs1558544
PubMed Link: 24319539
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment
Slattery, Martha L ML; John, Esther M EM; Stern, Mariana C MC; Herrick, Jennifer J; Lundgreen, Abbie A; Giuliano, Anna R AR; Hines, Lisa L; Baumgartner, Kathy B KB; Torres-Mejia, Gabriela G; Wolff, Roger K RK
Publication Date: 2013-08

Variant appearance in text: rs1558544
PubMed Link: 23912956
Variant Present in the following documents:
  • Main text
View BVdb publication page