rs121913364, BRAF

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. 31327063 2019
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
melanoma
CUI: C0025202
Disease: melanoma
0.720 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
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 GeneticVariation BEFREE Histopathologic and Clinical Characterization of Thyroid Tumors Carrying the BRAF(K601E) Mutation. 26422023 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. 31327063 2019
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF(V600E)), this patient's mutation was a BRAF(K601E) mutation that previously has been associated with some cases of the follicular variant of PTC. 22136270 2011
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
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 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
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.070 GeneticVariation BEFREE Unlike BRAF(V600E), the most common mutation, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular thyroid carcinomas. 26422023 2016
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
Follicular adenoma
CUI: C0205647
Disease: Follicular adenoma
0.030 GeneticVariation BEFREE Twenty-seven out of 29 nodules (93%) with BRAF(K601E) mutated tumors with surgical pathology results available for review were PTC, one (3.4%) was a follicular thyroid carcinoma, and one (3.4%) was a follicular adenoma. 26422023 2016
Follicular adenoma
CUI: C0205647
Disease: Follicular adenoma
0.030 GeneticVariation BEFREE Mutations included RAS in 20 of the 32 NIFTPs (62%), 4 of the 11 FAs (36%), and 3 of the 4 IE-PTC-FVs (75%); BRAF K601E in 1 NIFTP (3%); BRAF V600E in 5 PTC-EFGs (36%). 29582677 2018
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
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.030 GeneticVariation BEFREE Unlike BRAF(V600E), the most common mutation, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular thyroid carcinomas. 26422023 2016
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.030 GeneticVariation BEFREE The c.1801A>G mutation was identified in 4 follicular variant papillary carcinomas and one follicular carcinoma. 25120313 2014
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.030 GeneticVariation BEFREE The BRAF(K601E) mutation should be included in the spectrum of genetic alterations in FTC. 22136270 2011
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