ERBB2 c.65G>A ;(p.S22N)

Variant ID: 17-37856556-G-A

NM_004448.2(ERBB2):c.65G>A;(p.S22N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

British Journal Of Cancer
Cifuentes, Guadalupe A GA; Santiago, Adrián A; Méndez Blanco, Lucía L; Fueyo, María M; López Martínez, Esther E; Soria, Raquel R; Martín López, Irene I; Cucarella Beltrán, Pepa P; Pardo-Coto, Pablo P; Rodriguez-Rubi, David D; Urquilla, Karla K; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Otero, Andrea A; Diñeiro, Marta M; Capín, Raquel R; Cadiñanos, Juan J; Cabanillas, Rubén R
Publication Date: 2022-12-22

Variant appearance in text: ERBB2: 65G>A; Ser22Asn
PubMed Link: 36550207
Variant Present in the following documents:
  • 41416_2022_2102_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: S22N; rs896376245
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: ERBB2: 65G>A; S22N
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



A feed-forward loop between SorLA and HER3 determines heregulin response and neratinib resistance.

Oncogene
Al-Akhrass, Hussein H; Conway, James R W JRW; Poulsen, Annemarie Svane Aavild ASA; Paatero, Ilkka I; Kaivola, Jasmin J; Padzik, Artur A; Andersen, Olav M OM; Ivaska, Johanna J
Publication Date: 2021-02

Variant appearance in text: HER2: S22N
PubMed Link: 33420373
Variant Present in the following documents:
  • Main text
View BVdb publication page



A feed-forward loop between SorLA and HER3 determines heregulin response and neratinib resistance.

Oncogene
Al-Akhrass, Hussein H; Conway, James R W JRW; Poulsen, Annemarie Svane Aavild ASA; Paatero, Ilkka I; Kaivola, Jasmin J; Padzik, Artur A; Andersen, Olav M OM; Ivaska, Johanna J
Publication Date: 2021-02

Variant appearance in text: HER2: S22N
PubMed Link: 33420373
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: ERBB2: 65G>A; S22N
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Biomolecules
Shin, Jung Won JW; Kim, Soohyun S; Ha, Suji S; Choi, Byungsan B; Kim, Seongyeong S; Im, Seock-Ah SA; Yoon, Tae-Young TY; Chung, Junho J
Publication Date: 2019-10-19

Variant appearance in text: HER2: S22N
PubMed Link: 31635022
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00629.pdf
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: ERBB2: 65G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page