| Name |
BRAF V600E
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
biopsies and peripheral blood
|
| Experiment Method |
immunohistochemistry;PCR and pyrosequencing
|
| Up/Down |
Up
|
| Pro/Anti |
Pro
|
| Funtion Description |
BRAFV600E-positive histiocytes were positive for the senescence marker p16Ink4a.BRAFV600E mutation was present in all the biopsy and peripheral blood samples from patients with ECD and in none of the controls. ECD histiocytes and a fraction of circulating
|
| Regulation Gene |
BRAFV600E
|
| Year |
2015
|
| Pubmed ID |
24671772
|
| Title |
BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease
|
| Drug |
NA
|
| Disease |
Erdheim-Chester disease
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
NA
|
| High-throughput |
NA
|