rs397517096, EGFR

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.020 GeneticVariation BEFREE Afatinib is effective in the treatment of lung adenocarcinoma with uncommon EGFR p.L747P and p.L747S mutations. 31200815 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.020 GeneticVariation BEFREE EGFR mutation L747P led to gefitinib resistance and accelerated liver metastases in a Chinese patient with lung adenocarcinoma. 26339441 2015
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Non-small cell lung cancer harboring a rare EGFR L747P mutation showing intrinsic resistance to both gefitinib and osimertinib (AZD9291): A case report. 29673089 2018
Adenocarcinoma of lung, stage IV
CUI: C0854988
Disease: Adenocarcinoma of lung, stage IV
0.010 GeneticVariation BEFREE A Chinese woman diagnosed with stage IV lung adenocarcinoma harbored a rare EGFR L747P (2239-2240 TT > CC) mutation, and treatment with gefitinib and osimertinib failed to achieve the desired effect. 29673089 2018
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
0.010 GeneticVariation BEFREE L747P (2239-2240 TT>CC) in exon 19 is a rare EGFR mutation that appears to lead to gefitinib resistance and might accelerate liver metastases. 26339441 2015