ERBB2 c.749C>T ;(p.S250F)

Variant ID: 17-37866444-C-T

NM_004448.2(ERBB2):c.749C>T;(p.S250F)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genomic landscape and efficacy of HER2-targeted therapy in patients with HER2-mutant non-small cell lung cancer.

Frontiers In Oncology
Han, Yanjie Y; Xiong, Yuanyuan Y; Lu, Tao T; Chen, Rongrong R; Liu, Yuan Y; Tang, Hui H; Geng, Ruixuan R; Wang, Yingyi Y
Publication Date: 2023

Variant appearance in text: HER2: S250F
PubMed Link: 37077822
Variant Present in the following documents:
  • fonc-13-1121708.pdf
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: ERBB2: S250F
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology
Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW
Publication Date: 2022-10-26

Variant appearance in text: ERBB2: Ser250Phe
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s011.xlsx, sheet 2
  • PATH-259-81-s009.xlsx, sheet 2
View BVdb publication page



Stage-stratified molecular profiling of non-muscle-invasive bladder cancer enhances biological, clinical, and therapeutic insight.

Cell Reports. Medicine
Hurst, Carolyn D CD; Cheng, Guo G; Platt, Fiona M FM; Castro, Mauro A A MAA; Marzouka, Nour-Al-Dain S NS; Eriksson, Pontus P; Black, Emma V I EVI; Alder, Olivia O; Lawson, Andrew R J ARJ; Lindskrog, Sia V SV; Burns, Julie E JE; Jain, Sunjay S; Roulson, Jo-An JA; Brown, Joanne C JC; Koster, Jan J; Robertson, A Gordon AG; Martincorena, Inigo I; Dyrskjøt, Lars L; Höglund, Mattias M; Knowles, Margaret A MA
Publication Date: 2021-12-21

Variant appearance in text: ERBB2: S250F
PubMed Link: 35028613
Variant Present in the following documents:
  • mmc7.pdf
  • mmc1.pdf
View BVdb publication page



Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Genome Medicine
Shi, Ming-Jun MJ; Meng, Xiang-Yu XY; Fontugne, Jacqueline J; Chen, Chun-Long CL; Radvanyi, François F; Bernard-Pierrot, Isabelle I
Publication Date: 2020-09-28

Variant appearance in text: ERBB2: S250F
PubMed Link: 32988402
Variant Present in the following documents:
  • 13073_2020_781_MOESM3_ESM.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ERBB2: S250F
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: ERBB2: S250F
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.

Cellular Oncology (Dordrecht)
Schnitzler, Tician T; Ortiz-Brüchle, Nadina N; Schneider, Ursula U; Lurje, Isabella I; Guricova, Karolina K; Buchner, Alexander A; Schulz, Gerald Bastian GB; Heidenreich, Axel A; Gaisa, Nadine Therese NT; Knüchel, Ruth R; Garczyk, Stefan S
Publication Date: 2020-10

Variant appearance in text: ERBB2: 749C>T; Ser250Phe
PubMed Link: 32445084
Variant Present in the following documents:
  • 13402_2020_524_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02

Variant appearance in text: ERBB2: 749C>T; S250F
PubMed Link: 31857723
Variant Present in the following documents:
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications
Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2019-04-11

Variant appearance in text: ERBB2: 749C>T; S250F
PubMed Link: 30975989
Variant Present in the following documents:
  • 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Plos Genetics
Hänninen, Ulrika A UA; Katainen, Riku R; Tanskanen, Tomas T; Plaketti, Roosa-Maria RM; Laine, Riku R; Hamberg, Jiri J; Ristimäki, Ari A; Pukkala, Eero E; Taipale, Minna M; Mecklin, Jukka-Pekka JP; Forsström, Linda M LM; Pitkänen, Esa E; Palin, Kimmo K; Välimäki, Niko N; Mäkinen, Netta N; Aaltonen, Lauri A LA
Publication Date: 2018-03

Variant appearance in text: ERBB2: S250F
PubMed Link: 29522538
Variant Present in the following documents:
  • Main text
  • pgen.1007200.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: ERBB2: Ser250Phe
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: ERBB2: S250F
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page