rs113488022, BRAF

N. diseases: 490
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 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
Nodular Goiter
CUI: C0018023
Disease: Nodular Goiter
0.010 GeneticVariation BEFREE BRAF(V599E) mutation was not detected in any of 23 nodular goiters, 51 follicular adenomas and 18 follicular carcinomas. 12881714 2003
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines. 12917419 2003
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines. 12917419 2003
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE The BRAF V599E mutation was not found to be a major mutation in pancreatic cancers that had no K-ras codon 12 mutation. 12969789 2003
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. 12970315 2003
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315 2003
Undifferentiated carcinoma
CUI: C0205698
Disease: Undifferentiated carcinoma
0.060 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315 2003
Follicular adenoma
CUI: C0205647
Disease: Follicular adenoma
0.060 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315 2003
Thyroid Gland Follicular Adenoma
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
0.030 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315 2003
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Thus, when present, BRAF(V599E) appears to be essential for melanoma cell viability and transformation and, therefore, represents an attractive therapeutic target in the majority of melanomas that harbor the mutation. 14500344 2003
Adult Fibrosarcoma
CUI: C0278595
Disease: Adult Fibrosarcoma
0.010 GeneticVariation BEFREE Similar targeting of BRAF(V599E) or wild-type BRAF in human fibrosarcoma cells that lack the BRAF(V599E) mutation does not recapitulate these effects. 14500344 2003
Fibrosarcoma
CUI: C0016057
Disease: Fibrosarcoma
0.010 GeneticVariation BEFREE Similar targeting of BRAF(V599E) or wild-type BRAF in human fibrosarcoma cells that lack the BRAF(V599E) mutation does not recapitulate these effects. 14500344 2003
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Interestingly, the most common of BRAF mutation (V599E) has not been identified in tumors with K-ras mutations. 14513361 2003
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Mutations in the BRAF gene causing a V599E amino acid substitution that enhance the kinase activity have been described in >60% of cutaneous melanomas and premalignant melanocytic lesions. 14522889 2003
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation. 14522889 2003
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation. 14522889 2003
Precancerous Conditions
CUI: C0032927
Disease: Precancerous Conditions
0.010 GeneticVariation BEFREE Mutations in the BRAF gene causing a V599E amino acid substitution that enhance the kinase activity have been described in >60% of cutaneous melanomas and premalignant melanocytic lesions. 14522889 2003
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case. 14522897 2003
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case. 14522897 2003
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.770 GeneticVariation BEFREE While no RASSF1A or BRAF mutation (V599E) was detected in any of the primary MM studied (n = 21), the latter was found in the U266 cell line. 14616967 2003
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found. 14654916 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE Recently, a V599E hotspot mutation within the BRAF gene was reported in a high percentage of colorectal tumors and significantly associated to defective mismatch repair (MMR). 14668801 2003
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
0.770 GeneticVariation BEFREE Here, we examined the effect of colon tumor-associated B-Raf mutations within the kinase activation segment, including V599E, on extracellular signal-regulated kinase (Erk) and nuclear factor kappaB (NFkappaB) signaling, and on the transformation of NIH3T3 fibroblasts. 14678966 2003