title: A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene.
abstract: We investigated the influence of the polymorphism D104N of the COL18A1 gene, encoding endostatin, on the occurrence of sporadic breast cancer in 181 patients and 448 controls. The homozygous 104NN polymorphism was found in five patients but was absent in controls (2.8% vs 0.0%; P = 0.002). Individuals with this genotype had a significantly increased risk for disease. Our results suggest, for the first time, that the homozygous 104NN polymorphism, even at low frequency, constitutes an important inherited determinant of the disease.
authors.forename: Gustavo J
authors.initials: GJ
authors.lastname: Lourenço
authors.forename: Cassio
authors.initials: C
authors.lastname: Cardoso-Filho
authors.forename: Neiva S L
authors.initials: NS
authors.lastname: Gonçales
authors.forename: Julia Y
authors.initials: JY
authors.lastname: Shinzato
authors.forename: Luis C
authors.initials: LC
authors.lastname: Zeferino
authors.forename: Helvia
authors.initials: H
authors.lastname: Nascimento
authors.forename: Fernando F
authors.initials: FF
authors.lastname: Costa
authors.forename: Maria S C
authors.initials: MS
authors.lastname: Gurgel
authors.forename: Carmen S P
authors.initials: CS
authors.lastname: Lima
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D043169:Endostatins / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D043169:Endostatins