title: Two novel somatic mutations in the human interleukin 6 promoter region in a patient with sporadic breast cancer.
abstract: Two new single nucleotide mutations were observed within the promoter region of human interleukin-6 gene (IL-6) in the tumour sample of a patient with sporadic breast cancer, which was a somatic change. Both mutations, one at -125 (C > G) and the other at position -173 (G > T) from the translation start site, were transversions observed at new positions, not reported earlier. In addition to these two novel mutations in this patient, a known somatic polymorphism was also observed at position -174 (G > C) (from the transcription initiation site, redesignated as -236 from the translational initiation site as per the HUGO nomenclature). Further, a preliminary comparative analysis of the studied promoter region by the 'ConsInspector 3.0' program, where the mutated sequence (AF362378) was compared with the sequence existing in the database (Y00081), depicted the presence of the variations in putative binding sites for transcription factors such as glucocorticoid response element (GRE) and nuclear factor kappa-B (NFkappa-B), which could lead to differential expression of this gene.
authors.affiliation: National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi, India.
authors.forename: A
authors.initials: A
authors.lastname: Saha
authors.forename: N K
authors.initials: NK
authors.lastname: Bairwa
authors.forename: A
authors.initials: A
authors.lastname: Ranjan
authors.forename: V
authors.initials: V
authors.lastname: Gupta
authors.forename: R
authors.initials: R
authors.lastname: Bamezai
mesh_terms: D001483:Base Sequence; D001665:Binding Sites; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005938:Glucocorticoids / Q000378:metabolism; D015850:Interleukin-6 / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016328:NF-kappa B / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D020218:Response Elements
chemical_list: D005938:Glucocorticoids; D015850:Interleukin-6; D016328:NF-kappa B