C
Carole Tirapo
Researcher at Curie Institute
Publications - 5
Citations - 649
Carole Tirapo is an academic researcher from Curie Institute. The author has contributed to research in topics: Germline mutation & Genetic predisposition. The author has an hindex of 5, co-authored 5 publications receiving 503 citations.
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Journal ArticleDOI
Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation
Tatiana Popova,Elodie Manié,Guillaume Rieunier,Virginie Caux-Moncoutier,Carole Tirapo,Thierry Dubois,Olivier Delattre,Brigitte Sigal-Zafrani,Marc A. Bollet,Michel Longy,Claude Houdayer,Xavier Sastre-Garau,Anne Vincent-Salomon,Dominique Stoppa-Lyonnet,Marc-Henri Stern +14 more
TL;DR: The genomic signature defined predicted BRCA1/2 inactivation in BLCs with 100% sensitivity and 90% specificity (97% accuracy) may ease the challenge of selecting patients for genetic testing or recruitment to clinical trials of novel emerging therapies that target DNA repair deficiencies in cancer.
Journal ArticleDOI
Germline mutation in the RAD51B gene confers predisposition to breast cancer
Lisa Golmard,Virginie Caux-Moncoutier,Grégoire Davy,Essam Al Ageeli,Brigitte Poirot,Carole Tirapo,Dorothée Michaux,Catherine Barbaroux,Catherine Dubois d'Enghien,André Nicolas,Laurent Castera,Xavier Sastre-Garau,Marc-Henri Stern,Claude Houdayer,Claude Houdayer,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet +16 more
TL;DR: This study identified the first RAD51B mutation in a breast and ovarian cancer family and is the first report of XRCC3 mutation analysis in breast and Ovarian cancer.
Journal ArticleDOI
EMMA, a cost‐ and time‐effective diagnostic method for simultaneous detection of point mutations and large‐scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients
Virginie Caux-Moncoutier,Laurent Castera,Carole Tirapo,Dorothée Michaux,Marie-Alice Remon,Anthony Laugé,Etienne Rouleau,Antoine De Pauw,Bruno Buecher,Marion Gauthier-Villars,Jean-Louis Viovy,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Claude Houdayer,Claude Houdayer +14 more
TL;DR: This study suggests that EMMA represents a valuable short‐term and midterm option for many diagnostic laboratories looking for an easy, reliable, and affordable strategy, enabling fast and sensitive analysis for a large number of genes.
Journal ArticleDOI
Contribution of CDKN2A/P16 ( INK4A ), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma.
Bruno Buecher,Marion Gauthier-Villars,Laurence Desjardins,L. Lumbroso-Le Rouic,Christine Levy,A. De Pauw,J Bombled,Carole Tirapo,Claude Houdayer,Claude Houdayer,Brigitte Bressac-de Paillerets,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet +12 more
TL;DR: The results indicate that the CDKN2A/P16INK4A, P14ARF, CDK4 genes are not responsible for the vast majority of genetic susceptibility to uveal melanoma, and suggest that one case of uvea melanoma in a family with a history of breast cancer is not sufficient to justify BRCA1/2 genetic testing when the classical criteria for molecular analysis are not present.
germline mutations in individuals with suspected genetic predisposition to uveal melanoma
Bruno Buecher,Marion Gauthier-Villars,A. De Pauw,Carole Tirapo,Claude Houdayer,Dominique Stoppa-Lyonnet,Laurence Desjardins,L. Lumbroso-Le,Rouic C. Levy,Brigitte Bressac-de Paillerets,Houdayer D. Stoppa-Lyonnet +10 more
TL;DR: In this article, the authors evaluated the contribution of CDKN2A/P16INK4A, P14ARF and CDK4 gene germline mutations in a series of patients with uveal melanoma.