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 | |||||
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 | |||||
Neoplasm Metastasis
|
0.100 | 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 | |||||
Secondary Neoplasm
|
0.100 | 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 | |||||
Carcinoma of lung
|
0.750 | CausalMutation | CLINVAR | BRAF and RAS mutations in human lung cancer and melanoma. | 12460918 | 2002 | |||||
Carcinoma of lung
|
0.750 | CausalMutation | CLINVAR | Missense mutations of the BRAF gene in human lung adenocarcinoma. | 12460919 | 2002 | |||||
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 | |||||
Papillary thyroid carcinoma
|
0.800 | GeneticVariation | BEFREE | BRAF(V599E) mutations were unique to PTCs, and not found in any of the other types of differentiated follicular neoplasms arising from the same cell type (0 of 46). | 12670889 | 2003 | |||||
melanoma
|
0.800 | GeneticVariation | BEFREE | We investigated the hypothesis that this common somatic BRAF mutation (V599E) would contribute to melanoma predisposition in familial and polygenic malignant melanoma if occurring as a germ-line mutation. | 12794760 | 2003 | |||||
Hereditary Melanoma
|
0.010 | GeneticVariation | BEFREE | We therefore conclude that the common somatic BRAF mutation V599E does not contribute to polygenic and familial melanoma predisposition. | 12794760 | 2003 | |||||
Familial (FPAH)
|
0.010 | GeneticVariation | BEFREE | We investigated the hypothesis that this common somatic BRAF mutation (V599E) would contribute to melanoma predisposition in familial and polygenic malignant melanoma if occurring as a germ-line mutation. | 12794760 | 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 | |||||
Neoplasms
|
0.800 | GeneticVariation | BEFREE | BRAF(V599E) mutation did not coexist with alterations in any of the RAS genes in any of the tumors. | 12881714 | 2003 |