BAP1 and breast cancer risk

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 varia...

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Veröffentlicht in:	Familial cancer 2005-01, Vol.4 (4), p.273-277
Hauptverfasser:	Coupier, Isabelle, Cousin, Pierre-Yves, Hughes, David, Legoix-Né, Patricia, Trehin, Alexandra, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Breast cancer Breast Neoplasms - genetics DNA Mutational Analysis Female Genetic Predisposition to Disease Humans Middle Aged Polymerase Chain Reaction Polymorphism, Single Nucleotide Risk Factors Tumor Suppressor Proteins - genetics Ubiquitin Thiolesterase - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	1389-9600 1573-7292
DOI:	10.1007/s10689-005-2833-4