EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: Malignant neoplasm of lung ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146795390
rs146795390
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.030 GeneticVariation BEFREE V843I, a lung cancer predisposing EGFR mutation, is responsible for resistance to EGFR tyrosine kinase inhibitors. 25057940 2014
dbSNP: rs146795390
rs146795390
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.030 GeneticVariation BEFREE A dramatic lung cancer course in a patient with a rare EGFR germline mutation exon 21 V843I: Is EGFR TKI resistance predictable? 23380224 2013
dbSNP: rs146795390
rs146795390
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.030 GeneticVariation BEFREE These observations suggest that the germline EGFR V843I mutation might have altered EGFR signaling in the multicentric development of adenocarcinoma, bronchoalveolar carcinoma, and atypical adenomatous hyperplasia and also might have had a role in the development of lung cancer in multiple members of her family. 18355544 2008