EGFR c.1553C>T ;(p.P518L)

Variant ID: 7-55229246-C-T

NM_005228.3(EGFR):c.1553C>T;(p.P518L)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs564398642
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 4
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: EGFR: 1553C>T; P518L
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.

Bmc Medical Genomics
Ye, Lihua L; Wang, Li L; Peng, Kexin K; Fang, Ou O; Tian, Zhen Z; Li, Caihua C; Fu, Xiaopeng X; Chen, Qingdong Q; Chen, Jia J; Luan, Jing J; Zhang, Zhenghua Z; Zhang, Qiaoan Q
Publication Date: 2022-08-05

Variant appearance in text: EGFR: 1553C>T; Pro518Leu
PubMed Link: 35932013
Variant Present in the following documents:
  • 12920_2022_1324_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: EGFR: 1553C>T; P518L; rs564398642
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021

Variant appearance in text: EGFR: 1553C>T; P518L
PubMed Link: 34858840
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A phase II study of poziotinib in patients with recurrent and/or metastatic head and neck squamous cell carcinoma.

Cancer Medicine
Lee, Ji Hyun JH; Heo, Seong Gu SG; Ahn, Beung-Chul BC; Hong, Min Hee MH; Cho, Byoung Chul BC; Lim, Sun Min SM; Kim, Hye Ryun HR
Publication Date: 2021-10

Variant appearance in text: EGFR: P518L
PubMed Link: 34528763
Variant Present in the following documents:
  • Main text
  • CAM4-10-7012.pdf
View BVdb publication page



A phase II study of poziotinib in patients with recurrent and/or metastatic head and neck squamous cell carcinoma.

Cancer Medicine
Lee, Ji Hyun JH; Heo, Seong Gu SG; Ahn, Beung-Chul BC; Hong, Min Hee MH; Cho, Byoung Chul BC; Lim, Sun Min SM; Kim, Hye Ryun HR
Publication Date: 2021-10

Variant appearance in text: EGFR: P518L
PubMed Link: 34528763
Variant Present in the following documents:
  • Main text
  • CAM4-10-7012.pdf
View BVdb publication page



PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M
Publication Date: 2021-07

Variant appearance in text: EGFR: 1553C>T; Pro518Leu
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: EGFR: P518L; rs564398642
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 29
View BVdb publication page



Differential responsiveness of MET inhibition in non-small-cell lung cancer with altered CBL.

Scientific Reports
Tan, Yi-Hung Carol YC; Mirzapoiazova, Tamara T; Won, Brian M BM; Zhu, Li L; Srivastava, Minu K MK; Vokes, Everett E EE; Husain, Aliya N AN; Batra, Surinder K SK; Sharma, Sherven S; Salgia, Ravi R
Publication Date: 2017-08-23

Variant appearance in text: EGFR: P518L
PubMed Link: 28835699
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9078.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: EGFR: P518L; rs564398642
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page