rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Herein, we present the case of a patient with bulky V600E-mutant BRAF hepatic flexure colon carcinoma, treated initially with FOLFOX plus bevacizumab neoadjuvant therapy and surgery. 23792567 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE These data suggest that the BRAF V600E mutation is not the target gene for abnormal MMR in carcinogenesis in patients with sporadic endometrial cancer, unlike in colon cancer. 19424571 2009
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Recently, an oncogenic V600E hotspot mutation within BRAF, a kinase encoding gene from the RAS/RAF/MAPK pathway, has been found to be associated with sporadic MSI-H colon cancer, but its association with HNPCC remains to be further clarified. 15342696 2004
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that targeting ErbB-3 receptors could represent an effective therapeutic approach in BRAF-V600E mutant colon cancer. 26160848 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Female patients and older group harbored a higher KRAS mutation (P = 0.018 and P = 0.031, respectively); BRAF (V600E) mutation showed a higher frequency in colon cancer and poor differentiation tumors (P = 0.020 and P = 0.030, respectively); proximal tumors appeared a higher PIK3CA mutation (P<0.001) and distant metastatic tumors shared a higher NRAS mutation (P = 0.010). 24339949 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE We conclude that the BRAF V600E mutation in microsatellite-stable colon cancer is associated with a significantly poorer survival in stages 2 to 4 colon cancer but has no effect on the excellent prognosis of microsatellite-unstable tumors. 16024606 2005
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE In 212 RAS wild-type patients, V600E mutation was higher in older patients (9.5% vs. 2.2%, p=0.017), women (9.2% vs. 2.2%, p=0.021) and right-sided CRCs (10.5% vs. 3.4%, p=0.06). dMMR was detected in 7.75% of all stages of CRCs, with the highest dMMR rate of 40% in stage II right-sided colon cancer. 28416767 2017