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FLASH GENE
Symbol FHIT contributors: SGE/npt - updated : 16-03-2010
HGNC name fragile histidine triad gene
HGNC id 3701
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    ANIMAL & CELL MODELS