Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility.
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.
Schubert
E L
EL
Division of Medical Genetics University of Washington, Seattle 98195-7720, USA. schubert@u.washington.edu
Lee
M K
MK
Newman
B
B
King
M C
MC
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
D020121:5' Untranslated Regions; D017931:DNA Primers; D005819:Genetic Markers; D011960:Receptors, Estrogen