title: Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma.
abstract: We investigated inherited polymorphic variation in genes spanning estrogen metabolism (10 SNPs [single nucleotide polymorphism]) to distinguish multilocus genotypes associated with breast cancer (n = 393), benign breast lesions (n = 154), and low risk (n = 1936). Three latent classification GoM extreme type groups represented the data: (a) fibroadenoma, and infrequent SRD5A2 and VDR alleles; (b) postmenopausal breast cancer, and infrequent CYP1A1-1 and CYP1A1-2 alleles (both over-represented infrequent alleles for CYP17, CYP19-3, and COMT); and (c) women at intrinsically low risk. Carriage of the respective multilocus genotypes increased risk 25-fold. We conclude that GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.
authors.affiliation: Center for Demographic Studies, Duke University, Durham, North Carolina 27708-0408, USA. beth@cds.duke.edu
authors.forename: Elizabeth H
authors.initials: EH
authors.lastname: Corder
authors.forename: Lukas A
authors.initials: LA
authors.lastname: Hefler
mesh_terms: D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism; D002394:Catechol O-Methyltransferase / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004967:Estrogens / Q000235:genetics / Q000378:metabolism*; D005260:Female; D018226:Fibroadenoma / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: D004967:Estrogens; D003577:Cytochrome P-450 Enzyme System; D002394:Catechol O-Methyltransferase