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BAP1 and Breast Cancer Risk
Authors:Isabelle?Coupier  author-information"  >  author-information__contact u-icon-before"  >  mailto:isabelle.coupier@curie.net"   title="  isabelle.coupier@curie.net"   itemprop="  email"   data-track="  click"   data-track-action="  Email author"   data-track-label="  "  >Email author,Pierre-Yves?Cousin,David?Hughes,Patricia?Legoix-Né,Alexandra?Trehin,Olga?M.?Sinilnikova,Dominique?Stoppa-Lyonnet
Affiliation:(1) Service de Génétique Oncologique, Institut Curie – Section Médicale, 26 rue d’Ulm, 75248 Paris, France;(2) INSERM U509 Pathologie Moléculaire des Cancers, Institut Curie – Section Recherche, Paris, France;(3) Unité d’Epidémiologie Génétique, Centre de Recherche International sur le Cancer, Lyon, France;(4) Laboratoire de Transfert, Institut Curie – Section Recherche, Paris, France;(5) The Institut Curie-Hybrigenics Projet, Institut Curie, Paris, France;(6) Hybrigenics, Paris, France;(7) Plate-forme mixte de génétique constitutionnelle des cancers fréquents, Hospices Civils de Lyon – Centre Léon Bérard, Lyon, France
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.
Keywords:BAP1  hereditary breast cancer
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