Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913468
rs121913468
ERBB2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE In mice, xenografts established from a patient whose HER2-positive tumor acquired a D769Y mutation in HER2 after progression on trastuzumab-based therapy were resistant to trastuzumab or lapatinib but were sensitive to neratinib. 30301790

2018
dbSNP: rs121913468
rs121913468
ERBB2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE One of the HER2 amplified tumors harbored a D769N mutation in exon 19 of the HER2 gene; all other tested tumors were wild type. 25809292

2015
dbSNP: rs121913468
rs121913468
ERBB2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE As part of the workup, the tumor was analyzed by a 50-gene targeted mutation panel, which detected 3 somatic mutations: ERBB2 (HER2) D769H activating missense mutation, TP53 Y126 inactivating truncating mutation, and SMARCB1 R374Q missense mutation. 26285240

2015