ERBB2 c.937C>A ;(p.L313I)

Variant ID: 17-37868216-C-A

NM_004448.2(ERBB2):c.937C>A;(p.L313I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Unexplained mismatch repair deficiency: Case closed.

Hgg Advances
Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A
Publication Date: 2023-01-12

Variant appearance in text: ERBB2: L313I
PubMed Link: 36624813
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Somatic Mutations in HER2 and Implications for Current Treatment Paradigms in HER2-Positive Breast Cancer.

Journal Of Oncology
Gaibar, Maria M; Beltrán, Laura L; Romero-Lorca, Alicia A; Fernández-Santander, Ana A; Novillo, Apolonia A
Publication Date: 2020

Variant appearance in text: HER2: L313I
PubMed Link: 32256585
Variant Present in the following documents:
  • Main text
  • JO2020-6375956.pdf
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: L313I
PubMed Link: 31635022
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00629.pdf
View BVdb publication page



Neratinib is effective in breast tumors bearing both amplification and mutation of ERBB2 (HER2).

Science Signaling
Cocco, Emiliano E; Javier Carmona, F F; Razavi, Pedram P; Won, Helen H HH; Cai, Yanyan Y; Rossi, Valentina V; Chan, Carmen C; Cownie, James J; Soong, Joanne J; Toska, Eneda E; Shifman, Sophie G SG; Sarotto, Ivana I; Savas, Peter P; Wick, Michael J MJ; Papadopoulos, Kyriakos P KP; Moriarty, Alyssa A; Cutler, Richard E RE; Avogadri-Connors, Francesca F; Lalani, Alshad S AS; Bryce, Richard P RP; Chandarlapaty, Sarat S; Hyman, David M DM; Solit, David B DB; Boni, Valentina V; Loi, Sherene S; Baselga, José J; Berger, Michael F MF; Montemurro, Filippo F; Scaltriti, Maurizio M
Publication Date: 2018-10-09

Variant appearance in text: HER2: L313I
PubMed Link: 30301790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing of 279 cancer genes in ampullary carcinoma reveals trends relating to histologic subtypes and frequent amplification and overexpression of ERBB2 (HER2).

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hechtman, Jaclyn F JF; Liu, Weiguo W; Sadowska, Justyna J; Zhen, Lisa L; Borsu, Laetitia L; Arcila, Maria E ME; Won, Helen H HH; Shah, Ronak H RH; Berger, Michael F MF; Vakiani, Efsevia E; Shia, Jinru J; Klimstra, David S DS
Publication Date: 2015-08

Variant appearance in text: ERBB2: L313I
PubMed Link: 25975284
Variant Present in the following documents:
  • Main text
View BVdb publication page