|
rs113488022
|
|
CNS disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3-12 y), vs. WT: 7.6 years (1-18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none).
|
31685033 |
2019 |
|
rs113488022
|
|
Glycogen Storage Disease Type VI
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutation of BRAF (V600E) was reported by 1st NGS and oral vemurafenib stabilized her disease for 6 months.
|
30462564 |
2019 |
|
rs113488022
|
|
Ki-1+ 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 |
|
rs113488022
|
|
Carcinosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Coexistence of BRAF V600E and TERT Promoter Mutations in Low-grade Serous Carcinoma of Ovary Recurring as Carcinosarcoma in a Lymph Node: Report of a Case.
|
29620581 |
2019 |
|
rs113488022
|
|
Ependymoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated.
|
31673897 |
2019 |
|
rs113488022
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
|
0.010 |
GeneticVariation
|
BEFREE |
Immunohistochemistry (IHC) was performed on the tumors using antibodies directed against the gene products of R132H mutant isocitrate dehydrogenase 1 (IDH1), alpha-thalassemia/mental retardation X-linked (ATRX), p53, H3K27M, H3K27me3, and V600E mutant BRAF.
|
30937985 |
2019 |
|
rs113488022
|
|
Childhood Anaplastic Oligoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We successfully treated a BRAF V600E-mutated anaplastic oligoastrocytoma with multiple extraneural metastases with vemurafenib and everolimus.
|
30462564 |
2019 |
|
rs113488022
|
|
Head and Neck Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
<b>Conclusions:</b> The complete response observed here illustrate the role of molecular profiling in complicate clinical situation of rare head and neck cancer and the potential benefit of BRAF-targeted therapy in ameloblastoma carrying <i>BRAF</i> V600E mutation.
|
31781502 |
2019 |
|
rs113488022
|
|
Enteropathy-Associated 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 |
|
rs113488022
|
|
Nephroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In summary, we demonstrate that BRA</span>F V600E mutations are not entirely restricted to typical MA, as they may be seen in MAs showing mitotic activity along with a subset of epithelial-predominant WTs in adults and children that have foci which overlap morphologically with MA.
|
31192863 |
2019 |
|
rs113488022
|
|
Epithelioid Cell Melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Distant metastasis due to heavily pigmented epithelioid melanoma with underlying BRAF V600E, NOTCH1, ERBB3, and PTEN mutations.
|
31025390 |
2019 |
|
rs113488022
|
|
CNS metastases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Vemurafenib as first-line therapy in <i>BRAF</i>-V600E-mutant Erdheim-Chester disease with CNS involvement.
|
31748352 |
2019 |
|
rs113488022
|
|
Malignant Head and Neck Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
<b>Conclusions:</b> The complete response observed here illustrate the role of molecular profiling in complicate clinical situation of rare head and neck cancer and the potential benefit of BRAF-targeted therapy in ameloblastoma carrying <i>BRAF</i> V600E mutation.
|
31781502 |
2019 |
|
rs113488022
|
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings.
|
31221175 |
2019 |
|
rs113488022
|
|
Stage IV Colorectal Cancer AJCC v7
|
|
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 |
|
rs113488022
|
|
Childhood Kidney Wilms Tumor
|
|
0.010 |
GeneticVariation
|
BEFREE |
In summary, we demonstrate that BRA</span>F V600E mutations are not entirely restricted to typical MA, as they may be seen in MAs showing mitotic activity along with a subset of epithelial-predominant WTs in adults and children that have foci which overlap morphologically with MA.
|
31192863 |
2019 |
|
rs113488022
|
|
Spindle Cell Oncocytoma of the Adenohypophysis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A SCO patient with BRAF V600E mutation was successfully treated using targeted inhibition of the MAPK/ERK signaling pathway.
|
31262927 |
2019 |
|
rs113488022
|
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among the 53 NSCLC samples, only 5 (9.3%) cases harbored BRAF V600E mutation, 80% were of adenocarcinoma type, and the rest (20%) was of squamous cell carcinoma.
|
31781475 |
2019 |
|
rs113488022
|
|
Astroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the present report we describe a BRAF V600E-mutated tumor with divergent morphological appearance comprising of anaplastic pleomorphic xanthoastrocytoma and astroblastoma.
|
30557911 |
2019 |
|
rs113488022
|
|
Low grade serous carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Coexistence of BRAF V600E and TERT Promoter Mutations in Low-grade Serous Carcinoma of Ovary Recurring as Carcinosarcoma in a Lymph Node: Report of a Case.
|
29620581 |
2019 |
|
rs113488022
|
|
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
<i>BRAF</i> V600E-positive monomorphic epitheliotropic intestinal T-cell lymphoma complicating the course of hairy cell leukemia.
|
31354304 |
2019 |
|
rs113488022
|
|
Malignant neoplasm of brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, the authors report on the substantial clinical response and reduction in cutaneous toxicity in a case series of BRAF V600E primary brain cancers treated with dual BRAF/MEK inhibitor therapy.
|
31675726 |
2019 |
|
rs113488022
|
|
Anaplastic Oligoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We successfully treated a BRAF V600E-mutated anaplastic oligoastrocytoma with multiple extraneural metastases with vemurafenib and everolimus.
|
30462564 |
2019 |
|
rs113488022
|
|
Cerebellar Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The cerebellar tumor revealed neither a BRAF V600E nor a H3F3A mutation but a homozygous CDKN2A/B deletion.
|
30203362 |
2018 |
|
rs113488022
|
|
Secondary malignant neoplasm of peritoneum
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF V600E is associated with increased risk of skin metastases, and PIK3CA mutation with decreased risk of peritoneal metastases.
|
29380640 |
2018 |