Coupier Isabelle, Cousin Pierre-Yves, Hughes David, Legoix-Né Patricia, Trehin Alexandra, Sinilnikova Olga M, Stoppa-Lyonnet Dominique
Service de Génétique Oncologique, Institut Curie--Section Médicale, 26 rue d'Ulm, 75248, Paris, France.
Fam Cancer. 2005;4(4):273-7. doi: 10.1007/s10689-005-2833-4.
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.
