Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Colorectal Carcinoma
|
0.900 | CausalMutation | CLINVAR | ||||||||
Papillary thyroid carcinoma
|
0.800 | CausalMutation | CLINVAR | ||||||||
Cardio-facio-cutaneous syndrome
|
0.710 | CausalMutation | CLINVAR | ||||||||
ASTROCYTOMA, LOW-GRADE, SOMATIC
|
0.700 | CausalMutation | CLINVAR | ||||||||
Nongerminomatous Germ Cell Tumor
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gastrointestinal Stromal Tumors
|
0.800 | CausalMutation | CLINVAR | Mutations of the BRAF gene in human cancer. | 12068308 | 2002 | |||||
Non-Small Cell Lung Carcinoma
|
0.800 | CausalMutation | CLINVAR | Mutations of the BRAF gene in human cancer. | 12068308 | 2002 | |||||
melanoma
|
0.800 | CausalMutation | CLINVAR | Mutations of the BRAF gene in human cancer. | 12068308 | 2002 | |||||
Colorectal Neoplasms
|
0.790 | CausalMutation | CLINVAR | Mutations of the BRAF gene in human cancer. | 12068308 | 2002 | |||||
Carcinoma of lung
|
0.750 | CausalMutation | CLINVAR | Mutations of the BRAF gene in human cancer. | 12068308 | 2002 | |||||
ovarian neoplasm
|
0.750 | CausalMutation | CLINVAR | Mutations of the BRAF gene in human cancer. | 12068308 | 2002 | |||||
Carcinoma of lung
|
0.750 | CausalMutation | CLINVAR | Missense mutations of the BRAF gene in human lung adenocarcinoma. | 12460919 | 2002 | |||||
Carcinoma of lung
|
0.750 | CausalMutation | CLINVAR | BRAF and RAS mutations in human lung cancer and melanoma. | 12460918 | 2002 | |||||
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
|
0.100 | GeneticVariation | BEFREE | Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation. | 12068308 | 2002 | |||||
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
|
0.800 | GeneticVariation | BEFREE | These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC. | 12881714 | 2003 | |||||
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
|
0.800 | CausalMutation | CLINVAR | Determinants of BRAF mutations in primary melanomas. | 14679157 | 2003 | |||||
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
|
0.800 | GeneticVariation | BEFREE | The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines. | 12917419 | 2003 | |||||
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
|
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
|
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
|
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 |