rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.060 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942 2006
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.050 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942 2006
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE In exon 15, one BRAF mutation (1796 thymine to adenine; V599E) was found in nonsmoking woman with well-differentiated adenocarcinoma. 16376942 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Double-hit therapies aimed at simultaneous inhibition of epidermal growth factor receptor and BRAF warrant exploration in CR</span>C patients carrying the V600E oncogenic mutation. 19001320 2008
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE The histopathology of BRAF-V600E-mutated lung adenocarcinoma. 18636014 2008
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE Adenocarcinomas with this clinicopathologic phenotype may be worthwhile investigating for BRAF-V600E mutation as more genetically oriented drug therapies emerge. 18636014 2008
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.020 GeneticVariation BEFREE Furthermore, high Mig-6 expression was independently predictive of greater disease-free survival in BRAF(V600E)-positive PTC. 19040996 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Real-time polymerase chain reaction identifies the most common BRAF mutation, V600E, in frozen or paraffin-embedded colorectal cancer tissue. 20670148 2010
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Real-time polymerase chain reaction identifies the most common BRAF mutation, V600E, in frozen or paraffin-embedded colorectal cancer tissue. 20670148 2010
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE BRAF p.Val600Glu (V600E) somatic mutation is mainly associated with MSS phenotype in metastatic colorectal cancer. 21289333 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. 21516079 2011
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE In this study, 239 samples obtained from 215 patients with metastatic colorectal cancer were tested for the presence of the seven most common mutations in the KRAS gene and the V600E mutation in the BRAF gene. 20645028 2011
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. 21516079 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Because BRAF(V600E) mutant may be responsible for cetuximab resistance in KRAS wild-type cells, we measured the growth of xenograft tumors originating from KRAS mutant and BRAF mutant cells in mice treated with cetuximab alone or plus simvastatin (n = 5 mice per treatment group). 21398618 2011
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE In conclusion, this meta-analysis provides evidence that BRAF V600E mutation is associated with lack of response in wild-type KRAS mCRC treated with anti-EGFR MoAbs. 20857202 2011
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE We report for the first time to our knowledge that V600E and non-V600E BRAF mutations affect different patients with NSCLC. 21825258 2011
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. 21516079 2011
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Among unselected mCRC patients, BRAF V600E mutation was detected in 48 of 546 primary tumors (8.8%). 20857202 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE The aim of the correlative tumour tissue studies was to investigate the relationship between EGFR gene copy numbers, activation of the EGFR pathway, expression and mutation of E-cadherin, V600E BRAF mutation and clinical outcome of patients with gastric and OGJ cancer treated with cetuximab combined with FUFOX. 22152101 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.070 GeneticVariation BEFREE The aim of the correlative tumour tissue studies was to investigate the relationship between EGFR gene copy numbers, activation of the EGFR pathway, expression and mutation of E-cadherin, V600E BRAF mutation and clinical outcome of patients with gastric and OGJ cancer treated with cetuximab combined with FUFOX. 22152101 2011
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.060 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.050 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. 21483012 2011