Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
0.010 GeneticVariation BEFREE Forty-one TGCT tumors were used to investigate hypermethylation of RASSF1A and MGMT gene and mutations of KRAS codon 12/13, BRAF V600E and cKIT exon 17 mutations. 31653608

2020

dbSNP: rs113488022
rs113488022
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs113488022
rs113488022
CUI: C3697936
Disease: Sialadenoma papilliferum
Sialadenoma papilliferum
0.010 GeneticVariation BEFREE BRAF V600E and AKT1 E17K in SP and IPMN) would be useful for the correct diagnosis of minor salivary gland papillary-cystic tumours. 31505033

2020

dbSNP: rs113488022
rs113488022
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs113488022
rs113488022
Pancreatic Intraductal Papillary Mucinous Neoplasm
0.010 GeneticVariation BEFREE BRAF V600E and AKT1 E17K in SP and IPMN) would be useful for the correct diagnosis of minor salivary gland papillary-cystic tumours. 31505033

2020

dbSNP: rs113488022
rs113488022
CUI: C0085074
Disease: Granuloma Annulare
Granuloma Annulare
0.010 GeneticVariation BEFREE The BRAF V600E mutation was not found in patients with panniculitis-like and granuloma annulare-like lesions. 31120137

2020

dbSNP: rs113488022
rs113488022
CUI: C0206726
Disease: gliosarcoma
gliosarcoma
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs113488022
rs113488022
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs113488022
rs113488022
Congenital arteriovenous malformation
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs113488022
rs113488022
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations
0.010 GeneticVariation BEFREE Patients from this cohort were screened for cutaneous manifestations, and BRAF c.1799T>A (p.V600E) mutational analysis was conducted in novel skin manifestations. 31120137

2020

dbSNP: rs113488022
rs113488022
CUI: C0017416
Disease: Genital Neoplasms, Female
Genital Neoplasms, Female
0.010 GeneticVariation BEFREE Papilloma of the Fallopian Tube: A Rare Gynecologic Neoplasm Harboring a BRAF (c.1799T>A) Mutation (V600E). 29851866

2019

dbSNP: rs113488022
rs113488022
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma
0.010 GeneticVariation BEFREE Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. 30216733

2019

dbSNP: rs113488022
rs113488022
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma
0.010 GeneticVariation BEFREE Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. 30216733

2019

dbSNP: rs113488022
rs113488022
CUI: C0746408
Disease: mass lesion
mass lesion
0.010 GeneticVariation BEFREE Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. 31685033

2019

dbSNP: rs113488022
rs113488022
Childhood Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE An Immune Suppression-associated EBV-positive Anaplastic Large Cell Lymphoma With a BRAF V600E Mutation. 30320628

2019

dbSNP: rs113488022
rs113488022
CUI: C0349533
Disease: Lymphoma of intestine
Lymphoma of intestine
0.010 GeneticVariation BEFREE The intestinal lymphoma bears the BRAF V600E mutant, which is the molecular hallmark of HCL, being implicated in its pathogenesis. 31354304

2019

dbSNP: rs113488022
rs113488022
CUI: C0677950
Disease: Stage IV Colorectal Cancer
Stage IV Colorectal Cancer
0.010 GeneticVariation BEFREE BRAF V600E and SRC mutations as molecular markers for predicting prognosis and conversion surgery in Stage IV colorectal cancer. 30792536

2019

dbSNP: rs113488022
rs113488022
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
0.010 GeneticVariation BEFREE The lack of BRAF V600E mutations in 28 sporadic pyogenic granulomas of the conjunctiva and eyelid suggests that such alterations are not a common driver in the pathogenesis of these periocular vascular lesions. 29406329

2019

dbSNP: rs113488022
rs113488022
CUI: C0302323
Disease: Reticulohistiocytosis
Reticulohistiocytosis
0.010 GeneticVariation BEFREE Congenital self-healing reticulohistiocytosis with BRAF V600E mutation in an infant. 30609054

2019

dbSNP: rs113488022
rs113488022
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME
0.010 GeneticVariation BEFREE LLS carcinomas were diagnosed at a mean age of 65 years (vs. 44 years in LS, p < 0.001), had a proximal to distal ratio of 1:1, and all were BRAF V600E-negative. 30575961

2019

dbSNP: rs113488022
rs113488022
Adult Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE An Immune Suppression-associated EBV-positive Anaplastic Large Cell Lymphoma With a BRAF V600E Mutation. 30320628

2019

dbSNP: rs113488022
rs113488022
Secondary malignant neoplasm of liver
0.010 GeneticVariation BEFREE BRAF V600E and SRC mutations were mutually exclusive, and SRC mutation was significantly associated with left-sided tumor and liver metastasis compared to BRAF V600E mutation (P = 0.016 and P = 0.025, respectively). 30792536

2019

dbSNP: rs113488022
rs113488022
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain
0.010 GeneticVariation BEFREE BRAF V600E mutations were recently identified in some pyogenic granulomas of skin, particularly lesions arising in patients with port wine stains. 29406329

2019

dbSNP: rs113488022
rs113488022
CUI: C4721452
Disease: Intestinal T-Cell Lymphoma
Intestinal T-Cell Lymphoma
0.010 GeneticVariation BEFREE The case is of interest, as it provides the first description of a <i>BRAF</i> V600E-positive intestinal T-cell lymphoma, along with immunohistochemical and molecular demonstration, occurring in concomitance with HCL. 31354304

2019

dbSNP: rs113488022
rs113488022
Pancreatic neuroendocrine tumour metastatic
0.010 GeneticVariation BEFREE Herein, we describe the clinical course of a patient with BRAF K601E and a patient with BRAF V600E WD metastatic panNET, and the identification of four mutations in BRAF not previously characterized. 31158244

2019