Abstract
BAP1 whose protein interacts with BRCA1 was analysed in a series of 47 French familial breast cancer cases negatively tested for BRCA1/2 mutations. The lack of detection of deleterious mutations suggests that BAP1 is not a high risk breast cancer predisposing gene. However, a common identified variant, rs123602, may be tested in sporadic cases as candidate for moderate risk.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
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Adult
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Breast Neoplasms / genetics*
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DNA Mutational Analysis
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Female
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Genetic Predisposition to Disease*
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Humans
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Middle Aged
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Polymerase Chain Reaction
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Polymorphism, Single Nucleotide
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Risk Factors
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Tumor Suppressor Proteins / genetics*
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Ubiquitin Thiolesterase / genetics*
Substances
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BAP1 protein, human
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Tumor Suppressor Proteins
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Ubiquitin Thiolesterase