rs121913364, BRAF

N. diseases: 34
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
0.800 CausalMutation CLINVAR
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
0.700 CausalMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation BEFREE Melanomas had p.V600E (n = 30), p.V600K (n = 4), p.K601E (n = 1), p.600-601delinsE (n = 1), or no p.V600 mutations (n = 31). 23651150 2014
Splenic Marginal Zone B-Cell Lymphoma
CUI: C0349632
Disease: Splenic Marginal Zone B-Cell Lymphoma
0.010 GeneticVariation BEFREE A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. 22133769 2012
Follicular adenoma
CUI: C0205647
Disease: Follicular adenoma
0.030 GeneticVariation BEFREE A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. 12881714 2003
Thyroid Gland Follicular Adenoma
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
0.020 GeneticVariation BEFREE A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. 12881714 2003
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE A distinct mutation in BRAF (codon K600E) was detected in three cases of the follicular variant of PTC. 14743508 2004
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE All cases positive for the BRAF(K601E) mutation were reviewed to confirm histopathologic diagnosis and establish tumor variant, and clinical charts were reviewed to obtain clinical characteristics and follow-up information. 26422023 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. 17060676 2006
Follicular Variant Thyroid Gland Papillary Carcinoma
CUI: C3714651
Disease: Follicular Variant Thyroid Gland Papillary Carcinoma
0.020 GeneticVariation BEFREE BRAF V600E/K601E and RAS mutational analysis was performed on 187 FVPTCs. 25648502 2015
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
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
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157 2003
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making. 23012255 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival. 24455489 2014
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.020 GeneticVariation BEFREE Further studies are necessary to clarify the putative clinical significance (e.g. association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs. 16219715 2006
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE Further studies are necessary to clarify the putative clinical significance (e.g. association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs. 16219715 2006
Follicular Variant Thyroid Gland Papillary Carcinoma
CUI: C3714651
Disease: Follicular Variant Thyroid Gland Papillary Carcinoma
0.020 GeneticVariation BEFREE Further studies are necessary to clarify the putative clinical significance (e.g. association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs. 16219715 2006
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
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
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM). 22855150 2012