%0 Journal Article
%T ATM variants and cancer risk in breast cancer patients from Southern Finland
%A Johanna Tommiska
%A Laila Jansen
%A Outi Kilpivaara
%A Hege Edvardsen
%A Vessela Kristensen
%A Anitta Tamminen
%A Kristiina Aittom£¿ki
%A Carl Blomqvist
%A Anne-Lise B£¿rresen-Dale
%A Heli Nevanlinna
%J BMC Cancer
%D 2006
%I BioMed Central
%R 10.1186/1471-2407-6-209
%X Two common ATM variants, 5557G>A and ivs38-8T>C, previously suggested to associate with bilateral breast cancer, were genotyped in an extensive set of 786 familial and 884 unselected breast cancer cases as well as 708 healthy controls. We also screened the entire coding region and exon-intron boundaries of the ATM gene in 47 familial breast cancer patients and constructed haplotypes of the patients. The identified variants were also evaluated for increased breast cancer risk among additional breast cancer cases and controls.Neither of the two common variants, 5557G>A and ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk, bilateral breast cancer or multiple primary cancers in any of the patient groups or subgoups. Three rare missense alterations and one intronic change were each found in only one patient of over 250 familial patients studied and not among controls. The fourth missense alteration studied further was found with closely similar frequencies in over 600 familial cases and controls.Altogether, our results suggest very minor effect, if any, of ATM genetic variants on familial breast cancer in Southern Finland. Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer.The ATM (Ataxia-Telangiectasia Mutated) kinase has an essential role in maintaining genomic integrity. It is a key activator of the cellular responses to DNA double-strand breaks [1]. Mutations in the ATM gene cause ataxia-telangiectasia (A-T) [2], a rare recessive disorder characterized by progressive neurodegeneration, cell cycle checkpoint defects, radiosensitivity and increased risk of cancer, particularly of lymphoid malignancies [3]. As radiation exposure is associated with an increased risk of breast cancer, the function of the ATM protein makes it a good candidate for a role in breast cancer predisposition [4]. The first suggestion that ATM might be a bre
%U http://www.biomedcentral.com/1471-2407/6/209