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FLASH GENE
Symbol TWIST1 contributors: mct/pgu - updated : 21-08-2016
HGNC name twist homolog 1 (Drosophila)
HGNC id 12428
ASSOCIATED DISORDERS
corresponding disease(s) ACS3 , BGS2 , ISCC , DEL7P21 , CRS , RBNSS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
in breast carcinoma, gastric and lung cancer with metastasis
tumoral     --over  
in gliomas and promotes invasion
tumoral     --low  
by hypermethylation is observed frequently in colorectal tumors
tumoral     --over  
associated with unfavorable outcomes in patients with colorectal cancer
tumoral somatic mutation      
in giant cell tumor of bone, leading to inappropriate TWIST1 downregulation of RUNX2, arrested osteoblastic differentiation, and the maintenance of an immature and neoplastic phenotype (
constitutional     --other  
epithelial expression of TWIST1 were disturbed in those placentas with chromosomal aberrations
constitutional     --over  
hypomethylation is associated with overexpression of PLS3, GATA6, and TWIST1 in the Sezary Syndrome
Susceptibility to breast cancer in women with Saethre-Chotzen syndrome
Variant & Polymorphism
Candidate gene DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC
Marker
Therapy target
SystemTypeDisorderPubmed
cancerdigestiveoesophagus
suppression of esophageal cancer progression potentially by using TWIST1 as a target
cancerdigestivestomach
promising therapeutic target against intestinal-type gastric cancer.
ANIMAL & CELL MODELS
  • HIF-1alpha- and TWIST-null mice show similarities in their phenotypes