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 CausalMutation CLINVAR
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 CausalMutation CLINVAR
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.710 CausalMutation CLINVAR
ASTROCYTOMA, LOW-GRADE, SOMATIC
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
0.700 CausalMutation CLINVAR
Nongerminomatous Germ Cell Tumor
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
0.700 CausalMutation CLINVAR
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.750 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.750 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.750 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919 2002
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.750 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918 2002
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation. 12068308 2002
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation. 12068308 2002
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. 12447372 2003
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC. 12881714 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
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157 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
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
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
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
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE In addition we have searched for exon 15 BRAF mutations in 24 samples of secondary melanoma from 22 cases of sporadic melanoma and detected the 1796T>A BRAF mutation which leads to a substitution of valine by glutamic acid at position 599 (V599E) in six samples. 12619120 2003