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Observational study of HR+/HER2- metastatic breast cancer patients treated with abemaciclib in Spain in the Named Patient Use Program (AbemusS).

Autor: Blanch S; Instituto Valenciano de Oncología (IVO), Carrer del Professor Beltrán Báguena, 8, 46009, Valencia, Valencia, Spain., Gil-Gil JM; Institut Català d'Oncologia (ICO), Gran Via 199-201, Hospitalet, 08908, Barcelona, Spain., Arumí M; Department of Medical Oncology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Oncology, Passeig de la Vall d'Hebron, 119, 08035, Barcelona, Spain., Aguirre E; Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009, Zaragoza, Spain., Seguí MÁ; Hospital Parc Taulí de Sabadell, Parc Taulí, 1, 08208, Sabadell, Barcelona, Spain., Atienza M; Medical Department, Lilly Spain, Av. de la Industria 30, 28108, Madrid, Spain., Díaz-Cerezo S; Medical Department, Lilly Spain, Av. de la Industria 30, 28108, Madrid, Spain., Molero A; Medical Department, Lilly Spain, Av. de la Industria 30, 28108, Madrid, Spain. molero_alberto@lilly.com., Cervera JM; Medical Department, Lilly Spain, Av. de la Industria 30, 28108, Madrid, Spain., Gavilá J; Instituto Valenciano de Oncología (IVO), Carrer del Professor Beltrán Báguena, 8, 46009, Valencia, Valencia, Spain.

Publikováno v: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico [Clin Transl Oncol] 2023 Oct; Vol. 25 (10), pp. 2950-2959. Date of Electronic Publication: 2023 Apr 07.

2223P Next-generation sequencing enables identification of RET rearrangements in papillary thyroid cancer

Autor: Clavé, S., Sese, M., Somoza, R., Arumí, M., Iglesias, C., Hernando, J., Garcia Alvarez, A., Lloveras, B., Guix Arnau, M., Capdevila Castillon, J., Bellosillo Paricio, B., Hernandez-Losa, J.

Publikováno v: In Annals of Oncology October 2023 34 Supplement 2:S1145-S1146

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

Autor: Guimier A; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France., de Pontual L; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France., Braddock SR; Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pérez-Jurado LA; Servicio de Genética, Hospital del Mar, Programa de Neurociencias, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), 08003 Barcelona, Spain.; Unidad de Genética, Universitat Pompeu Fabra, 08002 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08003 Barcelona, Spain., Muñoz-Cabello P; Servicio de Genética, Hospital del Mar, Programa de Neurociencias, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), 08003 Barcelona, Spain., Arumí M; Servicio de Patología, Hospital del Mar, 08003 Barcelona, Spain., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Lee H; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Wang LK; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Pluym ID; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lynch SA; Children's Health Ireland at Crumlin, Dublin D12 N512, Ireland., Stals K; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Ellard S; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Muller C; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France., Houyel L; M3C-Necker, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Cohen L; ETCC, 91300 Massy, France., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France., Bajolle F; M3C-Necker, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.; Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades, 75015 Paris, France., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris, Institut Imagine, 75015 Paris, France.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 353-356.

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