A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene.
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.
Lourenço
Gustavo J
GJ
Cardoso-Filho
Cassio
C
Gonçales
Neiva S L
NS
Shinzato
Julia Y
JY
Zeferino
Luis C
LC
Nascimento
Helvia
H
Costa
Fernando F
FF
Gurgel
Maria S C
MS
Lima
Carmen S P
CS
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
D043169:Endostatins