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 advanced CRCs, KRAS mutations occurred in 48% of cases (64% codons 12/13, 36% other codons) and BRAF mutations in 10% (66% V600E, 33% exon 11). 19474002 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Mutation analysis of 66 arbitrary selected colorectal carcinomas revealed that CD274-positive tumors usually (88%) carried the BRAF V600E mutation. 27813511 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Moreover, this method was proven to distinguish the BRAF V600E mutant from the wild type based on intrinsic differences by using a total of 312 CRC tissue samples paraffin-embedded, deparaffinized, and stained. 31208050 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF V600E and SRC mutations are important molecular markers which can predict prognosis and conversion surgery in Stage IV CRC. 30792536 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Detection of the BRAF V600E </span>mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. 23650027 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Here, we measured the prevalence and epidemiologic correlates of the BRAF V600E somatic mutation in cases collected as a part of a population-based case-control study of CRC in northern Israel. 20200438 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We conclude that a single endogenous BRAF(V600E) allele is sufficient to repress BIM and prevent death arising from growth factor withdrawal, and CRC cells with BRAF(V600E) mutations are addicted to the ERK1/2 pathway for repression of BIM and growth factor-independent survival. 18806830 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. 22210186 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE To summarize the usefulness of several recently discovered immunohistochemical markers in the study of gastrointestinal and liver tumors; to suggest the most current and effective immunohistochemical panels addressing common diagnostic challenges for these tumors; to share practical experience and useful tips for human epidermal growth factor receptor 2 testing in gastric and gastroesophageal junction adenocarcinoma and v-raf murine sarcoma viral oncogene homolog B V600E immunohistochemistry in colorectal carcinoma. 25549141 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. 23880961 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE When subclassified by combined BRAF V600E mutation and MMR status, loss of ARID1A expression was found most commonly in CRCs with the BRAF V600E mutated, MMR- deficient phenotype (58 of 232 cases, 25%, P < .01). 24925223 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Activating V600E mutation in BRAF gene has been linked with widespread methylation of CpG islands in sporadic colorectal cancers. 21455633 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. 21681432 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The MSI-high status has also been described in sporadic colorectal cancer (CRC) associated with BRAF gene mutation (V600E); this mutation was not present in LS-associated cancers. 26096739 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE <i>BRAF</i> (v-raf murine sarcoma viral oncogene homolog B1) V600E mutant colorectal cancer is associated with short survival. 30719102 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Concomitant with such properties, EBI-907 exhibits potent and selective cytotoxicity against a broader range of BRAF(V600E)-dependent cell lines including certain colorectal cancer cell lines with innate resistance to Vemurafenib. 26810733 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF V600E mutation is a poor prognostic factor in MSI-H metastatic CRC. 24585723 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. 21587258 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE V599E was observed in 12 of 19 (63%) polyps and 14 of 20 (70%) cancers (4 of 4 high MSI, 2 of 4 low MSI, and 8 of 12 stable MSI), a significant increase over HNPCC (0 of 15 or 0%), and unselected CRC (30 of 197 or 15.2%) ( P < .05). 15765445 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The V600E mutation does not appear to be associated with microsatellite instability, unlike the case in colorectal cancer. 22246856 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE We hypothesized it would be more commonly methylated and inactivated in serrated pathway colorectal cancers that are hallmarked by a BRAF V600E mutation and a methylator phenotype, compared to traditional pathway cancers that are BRAF wild type. 25613750 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. 26216840 2015
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