Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study

Breast Cancer Research : BCR
Rulla M TamimiDavid J Hunter

Abstract

The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of the haplotype diversity in Caucasian populations. We conducted a nested case-control study of breast cancer within the Nurses' Health Study cohort to address the role of common ATM haplotypes and breast cancer. Cases and controls were genotyped for five haplotype tagging single nucleotide polymorphisms. Haplotypes were predicted for 1309 cases and 1761 controls for which genotype information was available. Six unique haplotypes were predicted in this study, five of which occur at a frequency of 5% or greater. The overall distribution of haplotypes was not significantly different between c...Continue Reading

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Citations

Sep 26, 2006·Oncogene·M Ahmed, N Rahman
Aug 18, 2006·BMC Cancer·Johanna TommiskaHeli Nevanlinna
Apr 8, 2009·Genome Medicine·Roger L Milne
Sep 10, 2014·Environmental and Molecular Mutagenesis·Chang Myeon SongKyung Tae
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Jul 1, 2011·Cancer Treatment Reviews·A CerbinskaiteR J Edmondson

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Methods Mentioned

BETA
blood draw
genotyping
PCR

Software Mentioned

Haploview
Primer Express ® Oligo Design
SAS
Genetics
BEST

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