EPHB2, EPH receptor B2, 2048

N. diseases: 649; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Raf kinases are essential for normal Ras-Raf-MEK-ERK pathway signaling, and activating mutations in components of this pathway are associated with a variety of human cancers, as well as the related developmental disorders Noonan, LEOPARD, and cardiofaciocutaneous syndromes. 23352452 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE After performing single-cell RNA-seq on prostate cancer cell lines and circulating tumor cells from patients, we identified that upregulated gene expression in the EphB2 and Src pathways are associated with advanced malignancy. 31805710 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE In this issue of <i>Science Signaling</i>, Yuan <i>et al.</i> report that MEK1 homodimerization is necessary for signal transduction through the RAF-ERK pathway and that cancer-related MEK1 mutations confer enhanced dimerization and resistance to MEK inhibitors. 30377222 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Moreover, the Ras/Raf/MEK/ERK pathway has been estimated to be mutated in 30% of all cancers, thus making it the focus of many scientific studies which have lead to a deeper understanding of cancer development and help to elucidate potential weaknesses that can be targeted by pharmacological agents [1]. 21170740 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE We show here the presence of mutations in repetitive sequences in exon 17 of EPHB2 in 6 of 29 adenomas with microsatellite instability (MSI), and 101 of 246 MSI carcinomas (21% and 41%, respectively). 16288001 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE The application of mutation analysis of the KRAS and BRAF genes (members of the RAS-RAF-MEK-ERK-MAP kinase pathway) is consistent with the model for progression of mucinous carcinomas and a subset of serous carcinomas (the so-called low-grade serous carcinomas) through benign and borderline lesions. 15141374 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE The finding that at least 60% of serous borderline tumours harbour mutations in two members of the ERK-MAP-kinase pathway (BRAF 36%, KRAS 30%) compared with 12% of high-grade serous carcinomas (BRAF 0%, KRAS 12%) indicates that the majority of serous borderline tumours do not progress to serous carcinomas. 14991899 2004
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation disease BEFREE So, despite its overexpression in some kind of tumors, we decided to study the possibility of involvement in the EphB2 gene (EPHB2) mutation in colon cancers, because some of the well known tumor suppressor genes (e.g. p53) is overexpressed (really accumulated) in tumors. 11166921 2001
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.100 GeneticVariation disease BEFREE LKB1 deficiency renders non-small-cell lung cancer cells sensitive to ERK inhibitors.: ERK inhibitors in LKB1 mutated NSCLC. 31634668 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.100 GeneticVariation disease BEFREE In conclusion, LncRNA BC087858 could promote cells invasion and induce non-T790M mutation acquired resistance to EGFR-TKIs by activating PI3K/AKT and MEK/ERK pathways and EMT via up- regulating ZEB1 and Snail in NSCLC. 27409677 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Here we have analyzed the EPHB2 gene for germline alterations in 101 individuals either with 1) CRC and a personal or family history of prostate cancer (PC), or 2) intestinal hyperplastic polyposis (HPP), a condition associated with malignant degeneration such as serrated adenoma and CRC. 16740153 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Genomic structure and loss of heterozygosity of EPHB2 in colorectal cancer. 11166921 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE We screened for germline EPHB2 sequence variants in 116 population-based familial colorectal cancer cases by DNA sequencing. 18682749 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE KRAS and BRAF mutations occur in colorectal cancers (CRCs) and are considered mutually exclusive methods of activating the RAS/RAF/MEK/ERK pathway. 19474002 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Mutations in the Ras/Raf/MEK/ERK pathway are detected in 50% of colorectal cancer cases and play a crucial role in cancer development and progression. 29794421 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE The aim of the present study was to determine the relation of EPH tyrosine kinase receptor B2 (EPHB2) A9 region mutation and microsatellite instability (MSI); and to analyze their influence in prognosis of patients with sporadic colorectal cancer (CRC). 24222164 2013
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell
0.100 GeneticVariation disease BEFREE The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). 31685033 2019
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell
0.100 GeneticVariation disease BEFREE These results support an emerging model of universal ERK-activating genetic alterations driving pathogenesis in LCH. 27729324 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.100 GeneticVariation disease BEFREE In the extension analyses, ERK rs5999749, Dock180 rs4635002 and C3G rs7853122 showed marginally significant gene-dose effects for gastric cancer. 21698158 2011
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE Design, synthesis and biological evaluation of fused naphthofuro[3,2-c] quinoline-6,7,12-triones and pyrano[3,2-c]quinoline-6,7,8,13-tetraones derivatives as ERK inhibitors with efficacy in BRAF-mutant melanoma. 30396063 2019
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE Fourty percent of all melanomas harbor a mutation in the signaling adaptor BRAF (V600E) that results in ERK hyperactivity as an oncogenic driver. 29983861 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE Here, we show that concurrent loss of PTEN and activation of the Notch pathway is associated with poor response to the ERK inhibitor SCH772984, and that co-inhibition of Notch and ERK decreased viability in BRAF-V600E melanomas. 27655717 2016
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE However, in this study, we document that blocking the Ras-Raf-Mek-Erk MAPK pathway, either with an ERK (PLX4032) or a MEK (U1026) signaling inhibitor, in BRAF(V600E) human and murine melanoma cell lines increases collagen synthesis in vitro and collagen deposition in vivo. 25989506 2015
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type. 19755124 2009
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE Our findings warrant clinical investigation of the effectiveness of combinatorial targeting of MAPK/ERK and ROCK in NRAS mutant melanoma. 25728708 2015