title: The A4396G polymorphism in interferon regulatory factor 1 is frequently expressed in breast cancer cell lines.
abstract: Loss or mutation of known tumor suppressor genes accounts for a small proportion of all breast cancers. We have recently shown that interferon regulatory factor 1 (IRF1) is a putative tumor suppressor gene in breast cancer. We now report that the A4396G single nucleotide polymorphism in the IRF1 gene is more frequent in human breast cancer cell lines than in the general population (P = 0.01). Furthermore, A4396G is more frequently expressed in African American (black) than in European ancestry (white) subjects (n = 70 subjects; P < or = 0.001), leading to a significant difference in genotype distribution between these populations (P = 0.002).
authors.affiliation: Lombardi Comprehensive Cancer Center and Department of Oncology, Georgetown University School of Medicine, Washington, DC 20057, USA.
authors.forename: Kerrie B
authors.initials: KB
authors.lastname: Bouker
authors.forename: Todd C
authors.initials: TC
authors.lastname: Skaar
authors.forename: David S
authors.initials: DS
authors.lastname: Harburger
authors.forename: Rebecca B
authors.initials: RB
authors.lastname: Riggins
authors.forename: David R
authors.initials: DR
authors.lastname: Fernandez
authors.forename: Alan
authors.initials: A
authors.lastname: Zwart
authors.forename: Robert
authors.initials: R
authors.lastname: Clarke
mesh_terms: D001741:Black or African American / Q000235:genetics; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology; D002460:Cell Line; D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006367:HeLa Cells; D006801:Humans; D050856:Interferon Regulatory Factor-1 / Q000235:genetics*; D019169:Jurkat Cells; D020014:K562 Cells; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D050856:Interferon Regulatory Factor-1