Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer

• Published in: Journal of cancer research and clinical oncology 2008-08, Vol.134 (8), p.873-882
• Main Authors: Schrauder, M., Frank, S., Strissel, P. L., Lux, M. P., Bani, M. R., Rauh, C., Sieber, C. C., Heusinger, K., Hartmann, A., Schulz-Wendtland, R., Strick, R., Beckmann, M. W., Fasching, Peter A.
• Format: Article
• Language: English
• Subjects: Adult; Aged; Antineoplastic agents; Ataxia Telangiectasia Mutated Proteins; Biological and medical sciences; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - mortality; Breast Neoplasms - pathology; Cancer Research; Case-Control Studies; Cell Cycle Proteins - genetics; Disease-Free Survival; DNA damage; DNA-Binding Proteins - genetics; Female; Genetic Predisposition to Disease; Genotype & phenotype; Gynecology. Andrology. Obstetrics; Hematology; Humans; Internal Medicine; Kaplan-Meier Estimate; Mammary gland diseases; Medical sciences; Medicine; Medicine & Public Health; Middle Aged; Oncology; Original Paper; Pharmacology. Drug treatments; Polymorphism; Polymorphism, Single Nucleotide; Protein-Serine-Threonine Kinases - genetics; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Tumor Suppressor Proteins - genetics; Tumors
• ISSN: 0171-5216; 1432-1335
• DOI: 10.1007/s00432-008-0355-9

Purpose Various ATM (ataxia telangiectasia-mutated) mutations and polymorphisms have been reported to be associated with an increased breast cancer risk. Recent studies have produced contradictory results regarding the association between ATM genetic variants and breast cancer risk. Materials and methods The common ATM polymorphism 5557G>A (p.D1853N) (rs1801516), previously suggested to be associated with bilateral breast cancer, was analyzed using real-time PCR in 514 unselected patients with breast cancer and 511 age-matched healthy control individuals. DNA was obtained from peripheral blood draw. Results The ATM genotype was weakly associated with the risk for breast cancer ( P  = 0.04 for the overall test). The odds ratio for women with a heterozygous genotype was 0.70 (95% CI, 0.52–0.94) and for the homozygous variant 0.63 (95% CI, 0.27–1.49). Disease-free survival and overall survival showed no significant association with specific genotypes. Conclusions The results of this study might suggest a minor association between polymorphism 5557G>A and a reduced risk of breast cancer