rs121913470, ERBB2

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.030 GeneticVariation BEFREE L755S, a HER2 kinase domain mutation, is the most common HER2 mutation in breast cancer associated with resistance to anti-HER2 trastuzumab treatment. 31135266 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.030 GeneticVariation BEFREE Although afatinib, neratinib, and osimertinib were shown to be effective against most of the <i>ERBB2</i> mutations, only osimertinib demonstrated good efficacy against L755P and L755S mutations, the most common mutations in breast cancer. 29967253 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.030 GeneticVariation BEFREE HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2<sup>+</sup> Breast Cancer. 28487443 2017