Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE MLH1 promoter methylation and V600E BRAF mutation analysis were investigated on 61 CRCs. 31609810

2019

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 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

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation is specifically associated with sporadic MSI+ CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs. 25701956

2015

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. 23880961

2014

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 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

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The aim of our study was to test sebaceous neoplasms for V600E BRAF or KRAS mutations to determine if these mutations are associated with somatic or germline MMR defects, analogous to colorectal carcinomas. 24767862

2014

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 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

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Since January 1, 2009, BRAF V600E mutation analysis has been performed at our institution for all newly diagnosed CRCs with absent MLH1 and PMS2 proteins. 23897252

2013

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. 21681432

2012

dbSNP: rs1060503115
rs1060503115
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. 18556776

2008