ERBB2 c.2351G>A ;(p.R784H)

Variant ID: 17-37881022-G-A

NM_004448.2(ERBB2):c.2351G>A;(p.R784H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ERBB2: R784H; rs751226373
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.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: ERBB2: R784H
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
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: Arg784His
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s009.xlsx, sheet 2
  • PATH-259-81-s011.xlsx, sheet 2
View BVdb publication page



Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: ERBB2: 2351G>A; R784H
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Publication Date: 2021-07

Variant appearance in text: ERBB2: R784H
PubMed Link: 34097174
Variant Present in the following documents:
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: ERBB2: 2351G>A; Arg784His
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: ERBB2: R784H
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital.

Cancers
Simarro, Javier J; Murria, Rosa R; Pérez-Simó, Gema G; Llop, Marta M; Mancheño, Nuria N; Ramos, David D; Juan, Inmaculada de I; Barragán, Eva E; Laiz, Begoña B; Cases, Enrique E; Ansótegui, Emilio E; Gómez-Codina, José J; Aparicio, Jorge J; Salvador, Carmen C; Juan, Óscar Ó; Palanca, Sarai S
Publication Date: 2019-08-16

Variant appearance in text: ERBB2: Arg784His
PubMed Link: 31426418
Variant Present in the following documents:
  • Main text
  • cancers-11-01196.pdf
  • cancers-11-01196-s001.pdf
View BVdb publication page