rs372043866, ERBB2

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE There was no difference for the proportion of the 2 most frequent EGFR mutations (exon 19 deletion and L858R mutation) (P=0.85) or KRAS-mutated codon (P=0.22) between tumors in younger or older patients. 30095461 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE This uncertainty reflects the fact that most prospective clinical trials of EGFR TKIs have been restricted to patients with tumor harboring common (Del19 or L858R) mutations. 31558282 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Expert consensus has defined minimum requirements for routine testing and identification of epidermal growth factor (EGFR) mutations (15% of tumors harbor EGFR exon 19 deletions or exon 21 L858R substitutions) and anaplastic lymphoma kinase (ALK) rearrangements (5% of tumors) in advanced lung adenocarcinomas (ACs). 26620497 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation. 24835218 2014