Abstract
The 1100delC mutation of the CHEK2 gene was found to be a cause of breast cancer in 2002. The lifetime risk of breast cancer among women with a mutation and with a family history of breast cancer is approximately 25%. These women are good candidates for screening with MRI and for chemoprevention with tamoxifen. It is reasonable to test for this single mutation when women undergo testing for BRCA1 and BRCA2.
MeSH terms
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Breast Neoplasms / diagnosis*
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Breast Neoplasms / drug therapy
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Breast Neoplasms / prevention & control*
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Checkpoint Kinase 2
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Chemoprevention / methods
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Female
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Genetic Testing / methods*
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Humans
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Magnetic Resonance Imaging
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Mass Screening
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Mutation
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Protein Serine-Threonine Kinases / genetics*
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Tamoxifen / therapeutic use
Substances
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Tamoxifen
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Checkpoint Kinase 2
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CHEK2 protein, human
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Protein Serine-Threonine Kinases