Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.030 GeneticVariation BEFREE In an independent data set, 2 of 9 (22.2%) ERBB2/HER2-negative BrCa switched to ERBB2/HER2-positive with 1 BrM acquiring ERBB2/HER2 amplification and the other showing metastatic enrichment of the activating V777L ERBB2/HER2 mutation. 27926948

2017
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.030 GeneticVariation BEFREE This is the first report to show that HER2 V777L is coincident with HER2-amplification in breast cancers that have developed trastuzumab resistance. 27900589

2017
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.030 GeneticVariation BEFREE ERBB2/HER2 alterations were identified in 5 pmucBC (23 %): ERBB2 amplification was found in 3 of 3 cases (100 %) that were HER2+ by IHC and/or FISH; 1 pmucBC was negative for HER2 overexpression by IHC, but positive for amplification by CGP; and 2 pmucBC harbored the ERBB2 substitutions D769Y and V777L (one sample also featured ERBB2 amplification). 26762307

2016