title: ARLTS1, MDM2 and RAD51 gene variations are associated with familial breast cancer.
abstract: Genetic factors that contribute to the risk of breast cancer are largely not known and association studies have revealed several genes with low penetrance risk alleles for breast cancer. Analysis of these genes may provide important information on the risk factors affecting carcinogenesis. Variations in the ARLTS1, RAD51 and MDM2 genes have been associated with increased risk of different cancer types but for breast cancer the results are not consistent. In this study we investigated the role of the allelic variants in candidate genes acting in the tumor suppressor, DNA repair and p53 pathways as risk factors for familial breast cancer in 147 patients displaying characteristics of familial disease. Presence of the polymorphic variants were investigated by amplification of the corresponding regions and restriction fragment length polymorphism analysis. Genotype and allele frequencies in the patients were significantly different for all three variants. Our results indicate that the polymorphic variants might affect individual susceptibility towards breast cancer.
authors.affiliation: Department of Basic Oncology, I. U. Oncology Institute, Istanbul University, Istanbul, Capa, 34093, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Akisik
authors.forename: Hulya
authors.initials: H
authors.lastname: Yazici
authors.forename: Nejat
authors.initials: N
authors.lastname: Dalay
mesh_terms: D020727:ADP-Ribosylation Factors / Q000235:genetics*; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005190:Family; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D011110:Polymorphism, Genetic; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics*; D051135:Rad51 Recombinase / Q000235:genetics*
chemical_list: C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2; C495153:RAD51 protein, human; D051135:Rad51 Recombinase; D020727:ADP-Ribosylation Factors; C500039:ARL11 protein, human