rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Alterations in <i>MEK1/2</i> occur in cancers, both in the treatment-naïve state and following targeted therapies, most notably BRAF and MEK inhibitors in <i>BRAF</i>-V600E-mutant melanoma and colorectal cancer. 28655712 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. 25176643 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The presence of a BRAF c.1799T>A (p.V600E) mutation is associated with significantly poorer prognosis after CRC diagnosis among subgroups of patients. 22899730 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Assessment of BRAF V600E Status in Colorectal Carcinoma: Tissue-Specific Discordances between Immunohistochemistry and Sequencing. 26438153 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Approximately 5-10% of metastatic colorectal cancers harbor a BRAF-V600E mutation, which is correlated with resistance to EGFR-targeted therapies and worse clinical outcome. 26160848 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs. 17942460 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We evaluated miR-31-5p expression and gene mutations [KRAS (codon 61 or 146), NRAS (codon 12, 13, or 61), and BRAF (V600E)] in the EGFR downstream pathway in 102 CRC patients harboring KRAS (codon 12 or 13) wild-type who were treated with anti-EGFR therapeutics. 25472647 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We used preclinical models of CRC to demonstrate (18)F-FLT PET as a sensitive predictor of response to (V600E)BRAF inhibitors. 23341544 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE These tumors are less likely to have microsatellite instability than CRC with a V600E BRAF mutation and often harbor a KRAS or NRAS mutation. 31185985 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Multitarget stool DNA testing for colorectal-cancer screening. 25006736 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We analyzed sporadic CRCs in Omani (of African origin, N = 61), Iranian (of Caucasian origin, N = 53) and African American (N = 95) patients for microsatellite instability, expression status of mismatched repair genes (hMLH1, hMSH2) and presence of the BRAF (V600E) mutation. 18718023 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Sporadic MSI CRC often harbours BRAF(V600E); however, no consistent data exist regarding targeted treatment approaches in BRAF(wt) MSI CRC. 26001389 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation UNIPROT RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. 24996433 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE MLH1 promoter methylation and V600E BRAF mutation analysis were investigated on 61 CRCs. 31609810 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Our data show that IHC could be used in routine clinical practice as a screening method for BRAF V600E mutant protein detection in CRC patients. 27569082 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We provide a global assessment of gene expression motifs that differentiate BRAF V600E subtypes from other colorectal cancers. 27354468 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype. 18628431 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The aim of this study was to relate the CpG island methylator phenotype (CIMP; characterized by extensive promoter hypermethylation) to cancer-specific survival in colorectal cancer, taking into consideration relevant clinicopathologic factors, such as microsatellite instability (MSI) screening status and the BRAF V600E mutation. 20197478 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The association of BRAF V600E mutation and the presence of the CpG island methylator phenotype (CIMP) and microsatellite instability (MSI) often confound analysis of BRAF mutation status and survival in colorectal carcinoma. 22314188 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE This study aimed to determine whether V600E mutant and wild type BRAF colorectal cancers exhibit distinct sensitivities to the dual BRAF inhibitor AZ304. 29755114 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer. 19213871 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We screened 535 formalin-fixed paraffin-embedded CRC tissue samples for the BRAF V600E mutation, and selected 7 BRAF-mutated and 7 KRAS-mutated CRCs that were tumor size, stage, and microsatellite status-matched. 27082577 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Although the presence of the BRAF V600E mutation is indicative of a sporadic cancer, up to 30% to 50% of colorectal carcinomas with MLH1 promoter hypermethylation will lack a BRAF mutation. 27438990 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE In conclusion, miR-145 might be used as a therapeutic target in the treatment of colorectal cancer patients with BRAF V600E mutation. 24248543 2014