rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175 2019
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE LLS carcinomas were diagnosed at a mean age of 65 years (vs. 44 years in LS, p < 0.001), had a proximal to distal ratio of 1:1, and all were BRAF V600E-negative. 30575961 2019
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE To determine the association of DNA mismatch repair (MMR) status and somatic mutation in the B-Raf proto-oncogene (c.1799T>A [V600E]; BRAFV600E) or exon 2 of the KRAS proto-oncogene (KRAS) in the primary tumor with SAR in patients with stage III colon carcinomas treated with adjuvant chemotherapy. 28006055 2017
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE Few authors demonstrated that some architectural and specific cellular findings (i.e. polygonal eosinophilic cells defined as "plump cells" and sickle-shaped nuclei) are able to predict BRAF V600E mutation in both cytological and histological samples of papillary thyroid carcinoma (PTC) as well as in other carcinomas. 27738305 2017
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples. 27350555 2016
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE Although VE1 antibody can be useful in the screening of colon carcinomas for BRAF V600E-mutant proteins, molecular genetic confirmation is always necessary for mutation diagnosis. 24832158 2014
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE We found BRAF V600E mutations in 13% (4/31) of serous LMP and 5% (3/62) of invasive serous carcinomas. 22820660 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE Importantly, expression of BRAF(V600E) concomitant with the loss of only a single-copy of Lkb1, overcomes senencence-like features of BRAF(V600E)-mutant adenomas leading malignization to carcinomas. 23825589 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE Genotype-dependent cooperation of ionizing radiation with BRAF inhibition in BRAF V600E-mutated carcinomas. 23354848 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The high frequency of methylation and BRAF V600E mutation suggests that many signet ring cell carcinomas may be related to the serrated pathway of carcinogenesis. 22522845 2012
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE We analyzed 29 gallbladder carcinomas (9 papillary and 20 nonpapillary adenocarcinomas), 16 adenomas (6 pyloric, 3 intestinal, 3 biliary, 3 mixed pyloric-biliary, and 1 mixed pyloric-intestinal), and 5 cases of high-grade dysplasia for activating missense mutations in KRAS codons 12 and 13 and BRAF V600E mutations. 21307665 2011
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The development of BRAF(V600E)transgenic mice with the MST1 knockout background showed that these mice had abundant foci of poorly differentiated carcinomas and large areas without follicular architecture or colloid formation. 21249150 2011
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in 36.3% of SCa and 26.7% of TSA patients, but it was not detected in TA and Ca patients; MSI-H was noticed in 23% of SCa, 33.3% of TSA, 5.3% of Ca and 0% of TA patients, respectively (P<0.05). 21615873 2011
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE In contrast to other Braf-induced mouse models of tumorigenesis (i.e., melanomas and lung), in which knock-in of Braf(V600E) induces mostly benign lesions, Braf-expressing thyrocytes become transformed and progress to invasive carcinomas with a very short latency, a process that is dampened by treatment with an allosteric MEK inhibitor. 21220306 2011
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE Congruently, 0/10 oncoAd and 0/20 oncoFTC described in the literature so far carried BRAF V600E mutations. 18235983 2008
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The missense point mutation BRAF(V600E) was identified in 42% (13/31 cases) of papillary carcinomas and 33% (5/15 cases) of undifferentiated carcinomas but not in normal thyroid tissues, nodular hyperplasia, follicular adenomas, or follicular carcinomas. 17714762 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE BRAF V599E mutation in histologic samples was found in 5 (24%) of 21 SBTs, 1 (33%) of 3 MPSCs, 1 (17%) of 6 endometrioid carcinomas, but not detected in 42 conventional serous carcinomas, 12 mucinous borderline tumors, 10 mucinous, and 10 clear-cell carcinomas. 17309670 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas. 17453004 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The B-Raf gene was mutated with a T-->A transversion at nucleotide 1799 (V600E) in 8 of 10 differentiated PTC, and in 4 of 7 aggressive carcinomas. 16676402 2006
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE BRAF mutations were detected exclusively in papillary carcinomas (40 in 76 cases: 53%), and were exclusively V599E, a mutation frequently observed in other carcinomas. 14508525 2003
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.100 GeneticVariation BEFREE The prevalence of the BRAF(V599E) mutation in PTC is the highest reported to date in human carcinomas, being only exceeded by melanoma. 12881714 2003