rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Advanced Melanoma
CUI: C4727838
Disease: Advanced Melanoma
0.010 GeneticVariation BEFREE PLX4032 is commonly used in the treatment of advanced melanoma patients with BRAF-V600E mutation. 31810919 2019
Sarcoma
CUI: C1261473
Disease: Sarcoma
0.010 GeneticVariation BEFREE Patients with BRAF (v-Raf murine sarcoma viral oncogene homolog B) V600E-mutated metastatic colorectal cancer (mCRC) have a poor prognosis. 30662270 2019
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
0.010 GeneticVariation BEFREE Patients with BRAF (v-Raf murine sarcoma viral oncogene homolog B) V600E-mutated metastatic colorectal cancer (mCRC) have a poor prognosis. 30662270 2019
Cerebellar Neoplasms
CUI: C0007762
Disease: Cerebellar Neoplasms
0.010 GeneticVariation BEFREE The cerebellar tumor revealed neither a BRAF V600E nor a H3F3A mutation but a homozygous CDKN2A/B deletion. 30203362 2018
Pleural Effusion, Malignant
CUI: C0080032
Disease: Pleural Effusion, Malignant
0.010 GeneticVariation BEFREE Cells grown from malignant pleural effusion were sensitive to BRAF V600E inhibitor and were more vulnerable to a combination treatment with osimertinib. 27923714 2017
Carcinomatosis of peritoneal cavity
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
0.010 GeneticVariation BEFREE Furthermore, the incidence of the BRAF V600E mutation was significantly higher in PC than in non-PC patients (27.7% versus 7.3%, p<0.01). 26925640 2016
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
0.010 GeneticVariation BEFREE Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors. 26684240 2016
Epithelioid glioblastoma
CUI: C4289580
Disease: Epithelioid glioblastoma
0.010 GeneticVariation BEFREE BRAF V600E mutation was present in four eGBMs and four ePXAs. 26238627 2016
Monosomy
CUI: C0026499
Disease: Monosomy
0.010 GeneticVariation BEFREE In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10. 26517431 2016
Gastro-enteropancreatic neuroendocrine tumor
0.010 GeneticVariation BEFREE In conclusion, BRAF V600E mutation is likely to result in resistance to pazopanib but may be a potentianally actionable mutation in metastatic GEP-NETs patients. 26684240 2016
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.010 GeneticVariation BEFREE The aims of this study were to investigate whether succinate dehydrogenase B (SDHB), insulin growth factor 1 receptor (IGF1R), HER2, epidermal growth factor receptor (EGFR) and/or BRAF V600E immunohistochemistry could screen for wild-type gastrointestinal stromal tumours (GISTs), and to determine what proportion of wild-type GISTs expressed these proteins and might therefore represent candidates for targeted therapies. 25659413 2015
BRONCHIAL ADENOCARCINOMA
CUI: C0518964
Disease: BRONCHIAL ADENOCARCINOMA
0.010 GeneticVariation BEFREE Response to dabrafenib after progression on vemurafenib in a patient with advanced BRAF V600E-mutant bronchial adenocarcinoma. 25466451 2015
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE We demonstrated that overexpression of PTPN9 reduces EGFR phosphorylation and cooperates with BRAF(V</span>600E</span>) in</span>hibitor PLX4720 to reduce MAPK and Akt signaling, resulting in decreased glioma cell viability. 26023796 2015
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE The utility of immunohistochemistry (IHC) as an alternative approach for detection of BRAF(V600E) in the thoracic metastases of sporadic mCRC patients has not been evaluated until now. 24798160 2014
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.010 GeneticVariation BEFREE PKM2-regulated MLC2 phosphorylation, which is greatly enhanced by EGF stimulation or EGFRvIII, K-Ras G12V and B-Raf V600E mutant expression, plays a pivotal role in cytokinesis, cell proliferation and brain tumour development. 25412762 2014
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.010 GeneticVariation BEFREE Immunohistochemistry using the BRAF V600E mutation-specific monoclonal antibody VE1 is not a useful surrogate for genotyping in colorectal adenocarcinoma. 23763264 2013
Malignant neoplasm of colon stage IV
0.010 GeneticVariation BEFREE Off-label use of cetuximab plus sorafenib and panitumumab plus regorafenib to personalize therapy for a patient with V600E BRAF-mutant metastatic colon cancer. 23792568 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.010 GeneticVariation BEFREE To verify the technical characteristics of the microarray system for the correct identification of the KRAS mutational status at the two hotspot codons 12 and 13 and of the BRAF(V600E) mutation in colorectal tumor, we selected 75 samples previously characterized by conventional and CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR) followed by High Resolution Melting analysis and direct sequencing. 23536897 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
0.010 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
Marinesco-Sjogren syndrome
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
0.010 GeneticVariation BEFREE BRAF p.Val600Glu (V600E) somatic mutation is mainly associated with MSS phenotype in metastatic colorectal cancer. 21289333 2011
Pleomorphic Xanthoastrocytoma
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
0.020 GeneticVariation BEFREE We find that PXAs are genetically defined by the combination of CDKN2A biallelic inactivation and RAF alterations that were present in all 19 cases, most commonly as CDKN2A homozygous deletion and BRAF p.V600E mutation but also occasionally BRAF or RAF1 fusions or other rearrangements. 30051528 2019
Childhood Pleomorphic Xanthoastrocytoma
0.020 GeneticVariation BEFREE We find that PXAs are genetically defined by the combination of CDKN2A biallelic inactivation and RAF alterations that were present in all 19 cases, most commonly as CDKN2A homozygous deletion and BRAF p.V600E mutation but also occasionally BRAF or RAF1 fusions or other rearrangements. 30051528 2019
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.020 GeneticVariation BEFREE The BM probe not only enabled sensitive detection of two types of EGFR-associated point mutations located in GC-rich regions, but also successfully identified the BRAF V600E mutation in the serum from a thyroid cancer patient which could not be detected by the conventional sequencing method. 28201758 2017