Abstract
Our understanding of breast cancer genetics is evolving beyond deleterious mutations in BRCA1 and BRCA2. In the past several years, several low- and moderate-risk breast cancer susceptibility alleles have been identified that have a relative risk for breast cancer of < or = 2. The availability of new techniques such as genome-wide association studies ensures that more low-risk alleles will be identified. This article reviews our current understanding of low-penetrance genes, with a specific focus on their clinical implications.
MeSH terms
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Aged
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Alleles*
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Apoptosis Regulatory Proteins
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BRCA1 Protein / metabolism
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BRCA2 Protein / metabolism
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Breast Neoplasms / diagnosis
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Breast Neoplasms / epidemiology*
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Breast Neoplasms / genetics*
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Checkpoint Kinase 2
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Female
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Genes, BRCA1
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Genes, BRCA2
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Genetic Predisposition to Disease
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Genome, Human
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Humans
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Male
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Middle Aged
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Polymorphism, Genetic
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Polymorphism, Single Nucleotide
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Protein Serine-Threonine Kinases / genetics
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Risk
Substances
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Apoptosis Regulatory Proteins
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BLID protein, human
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BRCA1 Protein
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BRCA1 protein, human
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BRCA2 Protein
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BRCA2 protein, human
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Checkpoint Kinase 2
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CHEK2 protein, human
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Protein Serine-Threonine Kinases