Symbol
| FHIT
| contributors: SGE/npt - updated : 16-03-2010
|
HGNC name
| fragile histidine triad gene
|
HGNC id
| 3701
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
|  
| loss of function
|
in colorectal adenomas and in testicular germ cell tumor with metastasis | tumoral
| fusion
|  
|  
|  
|
with TRC8 in the translocation t(3;8) associated with clear cell renal carcinoma | constitutional
|  
| LOH
|  
|  
|
in patients with idiopathic pulmonary fibrosis without lung carcinoma | tumoral
|  
| translocation
|  
|  
|
t(3;20) (p14;p20) in breast cancer | tumoral
|  
|  
|  
| loss of function
|
in periocular sebaceous gland carcinomas | |
Susceptibility
|
to Muir-Torr syndrome to autism spectrum disorder to breakage that could contribute to lung carcinogenesis (increased by active cigarette smoking) |
Variant & Polymorphism
other
| de novo copy number variant in autism spectrum disorder |
|
|
Candidate gene
Marker
Therapy target
| | | |