Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913471
rs121913471
0.010 GeneticVariation BEFREE Although HER2-unamplified MBC patients do not regularly benefit from anti-HER2 target therapy, HER2 V777L mutation detected by next-generation sequencing from ctDNA may present as a predictive biomarker for anti-HER2-based strategy therapy in HER2-negative MBC patients. 31118664

2019

dbSNP: rs121913470
rs121913470
0.010 GeneticVariation BEFREE This case report describes a young woman with metastatic breast cancer whose tumor was found to carry a HER2 L755S mutation, which is in the kinase domain of HER2. 26358790

2015

dbSNP: rs372043866
rs372043866
0.010 GeneticVariation BEFREE Our study was designed to further analyze the existence of this cross-reaction and stress the need to exclude a metastatic breast cancer when dealing with EGFR L858R-positive cases. 25390349

2015