The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

doi:10.1007/s10549-007-9543-6

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The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Breast cancer research and treatment - 1 Jan 2008

Broeks Annegien, Braaf Linde M, Huseinovic Angelina, Schmidt Marjanka K, Russell Nicola S, van Leeuwen Flora E, Hogervorst Frans B L, Van 't Veer Laura J

Abstract excerpt

Heterozygous carriers of ATM mutations are at increased risk of breast cancer. In this case-control study, we evaluated the significance of germline ATM missense variants to the risk of contralateral breast cancer (CBC). We have determined the spectrum and frequency of ATM missense variants in 443 breast cancer patients diagnosed before age 50, including 247 patients who subsequently developed CBC. Twenty-one per...

Topics

Adult
Ataxia Telangiectasia Mutated Proteins
Breast Neoplasms
Cell Cycle Proteins
DNA Mutational Analysis
DNA-Binding Proteins
Female
Genetic Predisposition to Disease
Genetic Variation
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Middle Aged

Mutation

Mutation, Missense

Protein Serine-Threonine Kinases

Risk

Treatment Outcome

Source

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Identifiers

PMID: 17393301
DOI: 10.1007/s10549-007-9543-6
PMCID: PMC2137941

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