title: BAP1 and breast cancer risk.
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.
authors.affiliation: Service de Génétique Oncologique, Institut Curie--Section Médicale, 26 rue d'Ulm, 75248, Paris, France. isabelle.coupier@curie.net
authors.forename: Isabelle
authors.initials: I
authors.lastname: Coupier
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Cousin
authors.forename: David
authors.initials: D
authors.lastname: Hughes
authors.forename: Patricia
authors.initials: P
authors.lastname: Legoix-Né
authors.forename: Alexandra
authors.initials: A
authors.lastname: Trehin
authors.forename: Olga M
authors.initials: OM
authors.lastname: Sinilnikova
authors.forename: Dominique
authors.initials: D
authors.lastname: Stoppa-Lyonnet
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: C400134:BAP1 protein, human; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase