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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. 12198537 2002
melanoma
CUI: C0025202
Disease: melanoma
0.720 GeneticVariation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation 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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987 2004
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE The V599E mutation is highly prevalent in PTC with a papillary or mixed papillary follicular growth pattern, and the K600E mutation is apparently restricted to the follicular variant of PTC. 15095090 2004
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
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE Moreover, there is a close association between the type of mutation and the PTC histotype: BRAF(V600E) is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAF(K601E) is associated with the follicular variant of PTC. 16021577 2005
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
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
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
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
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
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
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 CausalMutation CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233 2007
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE Surprisingly, we did not identify the previously reported VK600-1E or K601E mutations in our PTC specimens. 17824790 2007
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.010 GeneticVariation BEFREE We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264). 17696956 2007
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers. 19042984 2008
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