title: ECRG1 and its relationship with esophageal cancer: a brief review.
abstract: Esophageal cancer ranks 8th among the most frequently occurring cancers of the world. The exact cause of esophageal squamous cell carcinoma (ESCC) is unknown; however, some factors like smoking, alcohol intake, consumption of fungal-contaminated, spicy, or nitrosamine-containing foodstuffs and hot beverages, together with various genetic factors, have been found associated with the occurrence of this disease in various parts of the world. Much work has been carried out to elucidate the role of various gene mutations and polymorphisms in esophageal mucosal cancer. Previous studies have suggested that esophageal cancer-related gene 1 (ECRG1), as a novel candidate of the tumor suppressor gene family, is expressed in normal esophagus, liver, colon and lung tissues, but the expression is seen to be down-regulated in tumors, especially in ESCC, and in adjacent tissues. The Arg290Gln polymorphism in exon 8 of the ECRG1 gene has been studied in particular in a number of cases and has been observed to play an active role in the development of ESCC. This suggests that substitution of the arginine in the conserved catalytic domain of the ECRG1 protein might reduce its catalytic capacity by impacting its 3-dimensional conformation, thereby causing the genetic susceptibility to ESCC.
authors.affiliation: Department of Biochemistry, University of Kashmir, Hazratbal, Srinagar, Kashmir, India.
authors.forename: Sabha
authors.initials: S
authors.lastname: Rasool
authors.forename: Tanzeela
authors.initials: T
authors.lastname: Khan
authors.forename: Falak
authors.initials: F
authors.lastname: Qazi
authors.forename: Bashir A
authors.initials: BA
authors.lastname: Ganai
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D057057:Serine Proteases / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D005819:Genetic Markers; D008565:Membrane Proteins; C446704:TMPRSS11A protein, human; D057057:Serine Proteases