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 In this study, we explored the effect of combined use of dabrafenib, a BRAF inhibitor, and cetuximab, an EGFR inhibitor, on BRAF(V600E)-mutant CRC stem cells and its possible mechanisms. 29534162 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors. 18428050 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE No point mutation was detected in BRAF codon Val600Glu for the studied CRC patients. 23297805 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The MSS/BRAF(V600E) subtype was associated with increased disease-specific mortality even in stage I-II CRC. 25973534 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We demonstrate that SSA-associated synchronous colorectal carcinomas have a striking predilection for elderly women, are associated with a favorable prognosis, and are MSI-H and BRAF V600E positive. 23887157 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The absence of BRAF V600E mutation separates LLS colorectal carcinomas from MLH1-methylated colorectal carcinomas with CIMP-positive phenotype. 30575961 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We show MCC expression is dramatically decreased in many CRC cell lines and the distinct subset of sporadic CRC characterized by the CpG island methylator phenotype and BRAF(V600E) mutation due to promoter methylation as reported previously. 18591935 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation UNIPROT ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. 17060676 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF V600E mutation in colorectal cancer is associated with right-sided tumours and iron deficiency anaemia. 25862899 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation UNIPROT ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making. 23012255 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Further preclinical and clinical investigations are needed to clarify the role of non-V600E mutations in CRC. 30463788 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Clinicopathological and molecular features can identify CRC patients with a higher prevalence of BRAF(V600E). 20635392 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE There were also tendencies toward associations of Fn-high with the BRAF V600E mutation (P = 0.047) and active Crohn-like lymphoid reactions (P = 0.052) in MSI-H CRCs. 28597080 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Indeed, whereas the median overall survival (OS) of colorectal cancer (CRC) patients receiving standard-of-care therapy is approximately two years or more if their tumors express wild-type BRAF and wild-type KRAS, median OS is less than twelve months with tumors expressing V600E-mutant BRAF and wild-type KRAS. 23792567 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. 27258561 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Real-time polymerase chain reaction identifies the most common BRAF mutation, V600E, in frozen or paraffin-embedded colorectal cancer tissue. 20670148 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE These results seem to indicate that Cdx2 may play a role in the serrated pathway to colorectal cancer as underlined by strong relationships with BRAF(V600E), CIMP-high and MMR-deficiency. 24166180 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? 23429431 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Because vemurafenib has shown limited single-agent clinical activity in BRAF(V600E)-mutant metastatic CRC, we therefore explored a range of combination therapies, with both standard agents and targeted inhibitors in preclinical xenograft models. 22180495 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE IHC is a suitable method to screen BRAF V600E mutation in FFPE samples of CRCs and PTCs. 30009773 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Overall, IHC with anti-BRAF V600E (VE1) antibody using recommended protocol with OptiView detection is optimal for detection of BRAF V600E mutation in CRC. 29127628 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Thus, VE1 immunohistochemistry is a highly sensitive and specific method in detecting BRAF (V600E) mutations in colorectal carcinoma. 24085553 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Moreover, proliferation and invasion assays were conducted using cell lines. miRNA array analysis revealed that microRNA-31 (miR-31)-5p was the most up-regulated miRNA in CRCs with mutated BRAF (V600E) compared with CRCs possessing wild-type BRAF (including cases with KRAS mutation). 24242331 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Here, we investigate molecular responses upon single and multi-target treatments, over time, using BRAF(V600E) mutant colorectal cancer cells as a model system. 29970458 2018