rs121913364, BRAF

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589 2013
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157 2003
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237 2012
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. 23026937 2013
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
0.700 CausalMutation CLINVAR
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233 2007
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE The patients with BRAF K601E- and T599_V600insAGA-mutated tumors had similar clinicopathologic features to those with BRAF V600E-mutated tumors. 29037218 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE We confirmed the presence of RAS mutations and BRAF K601E mutation in benign, borderline, and malignant follicular-patterned tumors. 29723601 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE Cytology was consistent with "follicular neoplasia" (negative for galectin-3 immunostaining); molecular analysis on the cytology sample detected a K601E mutation in the exon 15 of the BRAF gene. 22136270 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). 26643848 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE This technique, together with an earlier described real-time test specific for V600E and K601E will be useful for research and molecular diagnostic laboratories involved in the study of BRAF-related neoplasia. 20186005 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE The tumor was found to be BRAF mutation positive (K601E). 20718682 2010