title: Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility.
abstract: In order to evaluate the role of inherited variation in the estrogen receptor (ESR1) gene in human breast cancer, we determined intronic sequences flanking each ESRI exon; identified multiple SNPs and length polymorphisms in the ESR1 coding sequence, splice junctions and regulatory regions; and genotyped families at high risk of breast cancer and population-based breast cancer patients and controls. Of 10 polymorphic sites in ESR1, four are synonymous SNPs, two are nonsynonymous SNPs and four are length polymorphisms; five are novel. No ESR1 polymorphisms were associated with breast cancer, either in the high-risk families or the case-control study. We therefore conclude that inherited genetic variation is not a mechanism by which the estrogen receptor is commonly involved in breast cancer development.
authors.affiliation: Division of Medical Genetics University of Washington, Seattle 98195-7720, USA. schubert@u.washington.edu
authors.forename: E L
authors.initials: EL
authors.lastname: Schubert
authors.forename: M K
authors.initials: MK
authors.lastname: Lee
authors.forename: B
authors.initials: B
authors.lastname: Newman
authors.forename: M C
authors.initials: MC
authors.lastname: King
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D044383:Black People / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D016022:Case-Control Studies; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; D017931:DNA Primers; D005819:Genetic Markers; D011960:Receptors, Estrogen