rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE Reverse Phase Proteomic Array (RPPA, MD Anderson Cell Lines Project), RNAseq (Cancer Cell Line Encyclopedia) and vemurafenib sensitivity (Cancer Therapeutic Response Portal) data for BRAF-V600E cancer cell lines were curated. 31672130 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE Patients with this cancer have a high frequency (~50%) of oncogenic <i>BRAF</i> mutations, particularly BRAF V600E. 29387237 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE With advances in RAF inhibitors and second-generation inhibitors including encorafenib and vemurafenib, which have been approved for treating BRAF-V600E malignancies, the combinatorial therapeutic strategies of RAF inhibitors elicit remarkable responses in patients with BRAF-V600E mCRC. 30122982 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE Our findings provide evidence of critical survival signals in BRAF non-V600E mutant c</span>ancers, which could pave the way for effective treatment of these cancers. 29348459 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE In FNA biopsy samples (n=186), immunocytochemical expression of caveolin-1 and BRAF V600E mutation coincided with malignancy. 27818286 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE We found that gene mutations for EGFR (P = .02) and ALK (P < .001) were associated with cancer diagnosis at a younger age, and a similar trend existed for ERBB2 (P = .15) and ROS1 (P = .10) but not BRAF V600E (P = .43). 26720421 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE The usefulness of immunohistochemistry (IHC) as a new approach for the detection of BRAF V600E in cancer patients has been recently reported. 23927882 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.090 GeneticVariation BEFREE The BRAF inhibitor vemurafenib has become an important treatment option for melanoma patients, the majority of whom have a BRAF(V600E) mutation driving their malignancy. 23074264 2012
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