Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913470
rs121913470
ERBB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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
dbSNP: rs121913470
rs121913470
ERBB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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
dbSNP: rs121913470
rs121913470
ERBB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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