EGFR c.2258C>T ;(p.P753L)

Variant ID: 7-55242488-C-T

NM_005228.3(EGFR):c.2258C>T;(p.P753L)

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma-An Indian Perspective of 212 Patients.

International Journal Of Environmental Research And Public Health
Kaler, Amrit Kaur AK; Patel, Khushi K; Patil, Harshali H; Tiwarekar, Yash Y; Kulkarni, Bijal B; Hastak, Meenal M; Athikari, Nivetha N; Rane, Samrudhi S; Nikam, Ankita A; Umarji, Smita S; Shaikh, Imran I; Goyle, Sandeep S; Mistry, Rajesh R
Publication Date: 2022-12-31

Variant appearance in text: EGFR: 2258C>T
PubMed Link: 36613084
Variant Present in the following documents:
  • ijerph-20-00758.pdf
View BVdb publication page



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: P753L
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 4
View BVdb publication page



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: P753L
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: P753L
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: P753L; rs559717059
PubMed Link: 35761395
Variant Present in the following documents:
  • 12920_2022_1294_MOESM5_ESM.xlsx, sheet 1
  • 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: rs559717059
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
  • mmc2.xlsx, sheet 1
View BVdb publication page



A Nationwide Study on the Impact of Routine Testing for EGFR Mutations in Advanced NSCLC Reveals Distinct Survival Patterns Based on EGFR Mutation Subclasses.

Cancers
Koopman, Bart B; Cajiao Garcia, Betzabel N BN; Kuijpers, Chantal C H J CCHJ; Damhuis, Ronald A M RAM; van der Wekken, Anthonie J AJ; Groen, Harry J M HJM; Schuuring, Ed E; Willems, Stefan M SM; van Kempen, Léon C LC
Publication Date: 2021-07-20

Variant appearance in text: EGFR: P753L
PubMed Link: 34298851
Variant Present in the following documents:
  • Main text
  • cancers-13-03641.pdf
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: EGFR: P753L
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics
Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2020-12

Variant appearance in text: EGFR: 2258C>T; Pro753Leu
PubMed Link: 33332384
Variant Present in the following documents:
  • pgen.1009231.s001.xlsx, sheet 2
View BVdb publication page



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: rs559717059
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine
Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ
Publication Date: 2020-10

Variant appearance in text: EGFR: P753L
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.xlsx, sheet 1
View BVdb publication page



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: P753L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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: 2258C>T; P753L
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Multigene Mutation Profiling and Clinical Characteristics of Small-Cell Lung Cancer in Never-Smokers vs. Heavy Smokers (Geno1.3-CLICaP).

Frontiers In Oncology
Cardona, Andrés F AF; Rojas, Leonardo L; Zatarain-Barrón, Zyanya Lucia ZL; Ruiz-Patiño, Alejandro A; Ricaurte, Luisa L; Corrales, Luis L; Martín, Claudio C; Freitas, Helano H; Cordeiro de Lima, Vladmir Cláudio VC; Rodriguez, July J; Avila, Jenny J; Bravo, Melissa M; Archila, Pilar P; Carranza, Hernán H; Vargas, Carlos C; Otero, Jorge J; Barrón, Feliciano F; Karachaliou, Niki N; Rosell, Rafael R; Arrieta, Oscar O
Publication Date: 2019

Variant appearance in text: EGFR: P753L
PubMed Link: 31058075
Variant Present in the following documents:
  • Main text
  • fonc-09-00254.pdf
View BVdb publication page



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: P753L
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 13
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 8
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget
Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD
Publication Date: 2018-05-22

Variant appearance in text: EGFR: 2258C>T
PubMed Link: 29876005
Variant Present in the following documents:
  • oncotarget-09-25517-s001.pdf
View BVdb publication page



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: P753L
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: EGFR: 2258C>T
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: EGFR: 2258C>T; P753L
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s022.xlsx, sheet 1
View BVdb publication page



Oncogenic driver mutations, treatment, and EGFR-TKI resistance in a Caucasian population with non-small cell lung cancer: survival in clinical practice.

Oncotarget
Faehling, Martin M; Schwenk, Birgit B; Kramberg, Sebastian S; Eckert, Robert R; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Sträter, Jörn J
Publication Date: 2017-09-29

Variant appearance in text: EGFR: P753L
PubMed Link: 29100434
Variant Present in the following documents:
  • Main text
  • oncotarget-08-77897.pdf
View BVdb publication page



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: rs559717059
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: EGFR: P753L
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Mutational profiling of colorectal cancers with microsatellite instability.

Oncotarget
Lin, Elaine I EI; Tseng, Li-Hui LH; Gocke, Christopher D CD; Reil, Stacy S; Le, Dung T DT; Azad, Nilofer S NS; Eshleman, James R JR
Publication Date: 2015-12-08

Variant appearance in text: EGFR: 2258C>T; P753L
PubMed Link: 26517354
Variant Present in the following documents:
  • Main text
  • oncotarget-06-42334.pdf
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: EGFR: P753L
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

The Journal Of Investigative Dermatology
Siroy, Alan E AE; Boland, Genevieve M GM; Milton, Denái R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA
Publication Date: 2015-02

Variant appearance in text: EGFR: 2258C>T; P753L
PubMed Link: 25148578
Variant Present in the following documents:
  • NIHMS622327-supplement-supplement_1.pdf
View BVdb publication page



Epidermal growth factor receptor (EGFR) mutations and expression in squamous cell carcinoma of the esophagus in central Asia.

Bmc Cancer
Abedi-Ardekani, Behnoush B; Dar, Nazir Ahmad NA; Mir, Mohammad Muzaffar MM; Zargar, Showkat Ahmad SA; Lone, M Muqbool MM; Martel-Planche, Ghyslaine G; Villar, Stéphanie S; Mounawar, Mounia M; Saidi, Farrokh F; Malekzadeh, Reza R; Hainaut, Pierre P
Publication Date: 2012-12-17

Variant appearance in text: EGFR: P753L
PubMed Link: 23244191
Variant Present in the following documents:
  • Main text
  • 1471-2407-12-602.pdf
View BVdb publication page



[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: P753L
PubMed Link: 22613337
Variant Present in the following documents:
  • Main text
  • zgfazz-15-5-299.pdf
View BVdb publication page



Mutations in epidermal growth factor receptor gene in esophageal squamous cell carcinoma patients in kashmir- a high incidence area of India.

International Journal Of Health Sciences
Mir, Mohammad Muzaffar MM; Dar, Nazir A NA; Salam, Irfana I; Shah, Zaffar A ZA
Publication Date: 2008-07

Variant appearance in text: EGFR: P753L
PubMed Link: 21475485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma.

Bmc Medical Genomics
Blons, Hélène H; Pallier, Karine K; Le Corre, Delphine D; Danel, Claire C; Tremblay-Gravel, Maxime M; Houdayer, Claude C; Fabre-Guillevin, Elizabeth E; Riquet, Marc M; Dessen, Philippe P; Laurent-Puig, Pierre P
Publication Date: 2008-06-12

Variant appearance in text: EGFR: P753L
PubMed Link: 18549475
Variant Present in the following documents:
  • Main text
  • 1755-8794-1-25.pdf
View BVdb publication page