Works matching AU Golmard, Lisa

Results: 29
    1

    Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

    Published in:
    International Journal of Cancer, 2025, v. 157, n. 5, p. 897, doi. 10.1002/ijc.35475
    By:
    • Kasper, Edwige;
    • Boulouard, Flavie;
    • Basset, Noémie;
    • Golmard, Lisa;
    • Sassi, Hela;
    • Bouvignies, Emilie;
    • Branchaud, Maud;
    • Charbonnier, Camille;
    • Parodi, Nathalie;
    • Rolain, Marion;
    • Albuisson, Juliette;
    • al Saati, Ayman;
    • Benusiglio, Patrick;
    • Berthet, Pascaline;
    • Bidart, Marie;
    • Bonnet, Céline;
    • Bouras, Ahmed;
    • Boutry‐Kryza, Nadia;
    • Brayotel, Fanny;
    • Bubien, Virginie
    Publication type:
    Article
    2

    Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter.

    Published in:
    Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01904-1
    By:
    • Delhomelle, Hélène;
    • Trabelsi-Grati, Olfa;
    • Villy, Marie-Charlotte;
    • Ibadioune, Sabrina;
    • Maraone, Frederic;
    • Séné, Mathieu;
    • Buecher, Bruno;
    • Mouret-Fourme, Emmanuelle;
    • Gauthier-Villars, Marion;
    • Johannes, Faustine;
    • Golmard, Lisa;
    • Vincent-Salomon, Anne;
    • Pasmant, Eric;
    • Leclerc, Julie;
    • Bahuau, Michel;
    • Bièche, Ivan;
    • Colas, Chrystelle
    Publication type:
    Article
    3
    4

    Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 1, p. 107, doi. 10.1111/cge.14327
    By:
    • Schwartz, Mathias;
    • Moncoutier, Virginie;
    • Peytral, Adrien;
    • Le Gall, Jessica;
    • Suybeng, Voreak;
    • Pagès, Mélanie;
    • Masliah‐Planchon, Julien;
    • Trabelsi‐Grati, Olfa;
    • Melaabi, Samia;
    • Callens, Céline;
    • Bièche, Ivan;
    • Delhomelle, Hélène;
    • De Pauw, Antoine;
    • Saule, Claire;
    • Mouret‐Fourme, Emmanuelle;
    • Gauthier‐Villars, Marion;
    • Buecher, Bruno;
    • Colas, Chrystelle;
    • Stoppa‐Lyonnet, Dominique;
    • Golmard, Lisa
    Publication type:
    Article
    5

    Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 5, p. 662, doi. 10.1111/cge.13925
    By:
    • Boulouard, Flavie;
    • Kasper, Edwige;
    • Buisine, Marie‐Pierre;
    • Lienard, Gwendoline;
    • Vasseur, Stéphanie;
    • Manase, Sandrine;
    • Bahuau, Michel;
    • Barouk Simonet, Emmanuelle;
    • Bubien, Virginie;
    • Coulet, Florence;
    • Cusin, Véronica;
    • Dhooge, Marion;
    • Golmard, Lisa;
    • Goussot, Vincent;
    • Hamzaoui, Nadim;
    • Lacaze, Elodie;
    • Lejeune, Sophie;
    • Mauillon, Jacques;
    • Beaumont, Marie‐Pascale;
    • Pinson, Stéphane
    Publication type:
    Article
    6

    The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1657, doi. 10.1038/ejhg.2015.32
    By:
    • Frank, Michael;
    • Albuisson, Juliette;
    • Ranque, Brigitte;
    • Golmard, Lisa;
    • Mazzella, Jean-Michael;
    • Bal-Theoleyre, Laurence;
    • Fauret, Anne-Laure;
    • Mirault, Tristan;
    • Denarié, Nicolas;
    • Mousseaux, Elie;
    • Boutouyrie, Pierre;
    • Fiessinger, Jean-Noël;
    • Emmerich, Joseph;
    • Messas, Emmanuel;
    • Jeunemaitre, Xavier
    Publication type:
    Article
    7

    Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 535, doi. 10.1038/ejhg.2013.181
    By:
    • Tarabeux, Julien;
    • Zeitouni, Bruno;
    • Moncoutier, Virginie;
    • Tenreiro, Henrique;
    • Abidallah, Khadija;
    • Lair, Séverine;
    • Legoix-Né, Patricia;
    • Leroy, Quentin;
    • Rouleau, Etienne;
    • Golmard, Lisa;
    • Barillot, Emmanuel;
    • Stern, Marc-Henri;
    • Rio-Frio, Thomas;
    • Stoppa-Lyonnet, Dominique;
    • Houdayer, Claude
    Publication type:
    Article
    8

    Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
    By:
    • Harakalova, Magdalena;
    • van der Smagt, Jasper;
    • de Kovel, Carolien G F;
    • van't Slot, Ruben;
    • Poot, Martin;
    • Nijman, Isaac J;
    • Medic, Jelena;
    • Joziasse, Irene;
    • Deckers, Jaap;
    • Roos-Hesselink, Jolien W;
    • Wessels, Marja W;
    • Baars, Hubert F;
    • Weiss, Marjan M;
    • Pals, Gerard;
    • Golmard, Lisa;
    • Jeunemaitre, Xavier;
    • Lindhout, Dick;
    • Cuppen, Edwin;
    • Baas, Annette F
    Publication type:
    Article
    9

    Mutiple DICER1-related lesions associated with a germline deep intronic mutation.

    Published in:
    2018
    By:
    • Verrier, Florian;
    • Dubois d'Enghien, Catherine;
    • Gauthier‐Villars, Marion;
    • Bonadona, Valérie;
    • Faure‐Conter, Cécile;
    • Dijoud, Frédérique;
    • Stoppa‐Lyonnet, Dominique;
    • Houdayer, Claude;
    • Golmard, Lisa;
    • Dubois d'Enghien, Catherine;
    • Gauthier-Villars, Marion;
    • Faure-Conter, Cécile;
    • Stoppa-Lyonnet, Dominique
    Publication type:
    journal article
    10
    11

    First report of medulloblastoma in a patient with MUTYH‐associated polyposis.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12929
    By:
    • Villy, Marie‐Charlotte;
    • Warcoin, Mathilde;
    • Filser, Mathilde;
    • Buecher, Bruno;
    • Golmard, Lisa;
    • Suybeng, Voreak;
    • Schwartz, Mathias;
    • Bieche, Ivan;
    • Vacher, Sophie;
    • Laurence, Valérie;
    • Bourdeaut, Franck;
    • Bernier, Michèle;
    • Gutman, Tom;
    • Stoppa‐Lyonnet, Dominique;
    • Masliah‐Planchon, Julien;
    • Colas, Chrystelle
    Publication type:
    Article
    12

    Intra-individual Dose Escalation of Abiraterone According to Its Plasma Exposure in Patients with Progressive Metastatic Castration-Resistant Prostate Cancer: Results of the OPTIMABI Trial.

    Published in:
    Clinical Pharmacokinetics, 2024, v. 63, n. 7, p. 1025, doi. 10.1007/s40262-024-01396-x
    By:
    • Alexandre, Jérôme;
    • Oudard, Stephane;
    • Golmard, Lisa;
    • Campedel, Luca;
    • Mseddi, Mourad;
    • Ladoire, Sylvain;
    • Khalil, Ahmed;
    • Maillet, Denis;
    • Tournigand, Christophe;
    • Pasquiers, Blaise;
    • Goirand, Françoise;
    • Berthier, Joseph;
    • Guitton, Jérôme;
    • Dariane, Charles;
    • Joly, Florence;
    • Xylinas, Evanguelos;
    • Golmard, Jean Louis;
    • Abdoul, Hendy;
    • Puszkiel, Alicja;
    • Decleves, Xavier
    Publication type:
    Article
    13
    14

    Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

    Published in:
    International Journal of Cancer, 2016, v. 138, n. 4, p. 891, doi. 10.1002/ijc.29829
    By:
    • Manié, Elodie;
    • Popova, Tatiana;
    • Battistella, Aude;
    • Tarabeux, Julien;
    • Caux‐Moncoutier, Virginie;
    • Golmard, Lisa;
    • Smith, Nicholas K.;
    • Mueller, Christopher R.;
    • Mariani, Odette;
    • Sigal‐Zafrani, Brigitte;
    • Dubois, Thierry;
    • Vincent‐Salomon, Anne;
    • Houdayer, Claude;
    • Stoppa‐Lyonnet, Dominique;
    • Stern, Marc‐Henri
    Publication type:
    Article
    15
    16

    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.

    Published in:
    Familial Cancer, 2021, v. 20, n. 4, p. 337, doi. 10.1007/s10689-021-00264-y
    By:
    • Bakhuizen, Jette J.;
    • Hanson, Helen;
    • van der Tuin, Karin;
    • Lalloo, Fiona;
    • Tischkowitz, Marc;
    • Wadt, Karin;
    • Jongmans, Marjolijn C. J.;
    • SIOPE Host Genome Working Group;
    • Dörgeloh, Beate B.;
    • Farah, Roula A.;
    • Glentis, Stavros;
    • Golmard, Lisa;
    • Hoyer, Juliane;
    • Jahnukainen, Kirsi;
    • Jewell, Rosalyn;
    • Karow, Axel;
    • Katsibardi, Katharina;
    • Kuhlen, Michaela;
    • Meinhardt, Andrea;
    • Nemes, Karolina
    Publication type:
    Article
    17

    Lack of evidence for CDK12 as an ovarian cancer predisposing gene.

    Published in:
    Familial Cancer, 2020, v. 19, n. 3, p. 203, doi. 10.1007/s10689-020-00169-2
    By:
    • Eeckhoutte, Alexandre;
    • Saint-Ghislain, Mathilde;
    • Reverdy, Manon;
    • Raynal, Virginie;
    • Baulande, Sylvain;
    • Bataillon, Guillaume;
    • Golmard, Lisa;
    • Stoppa-Lyonnet, Dominique;
    • Popova, Tatiana;
    • Houdayer, Claude;
    • Manié, Elodie;
    • Stern, Marc-Henri
    Publication type:
    Article
    18
    19
    20

    ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.

    Published in:
    2019
    By:
    • Uro-Coste, Emmanuelle;
    • Masliah-Planchon, Julien;
    • Siegfried, Aurore;
    • Blanluet, Maud;
    • Lambo, Sander;
    • Kool, Marcel;
    • Roujeau, Thomas;
    • Boetto, Sergio;
    • Palenzuela, Gilles;
    • Bertozzi, Anne-Isabelle;
    • Gambart, Marion;
    • Coupier, Isabelle;
    • Oliver-Petit, Isabelle;
    • Golmard, Lisa;
    • Julia, Sophie;
    • Savagner, Fréderique;
    • Mohand-Oumoussa, Badreddine;
    • Tauziede-Espariat, Arnault;
    • Delisle, Marie-Bernadette;
    • Figarella-Branger, Dominique
    Publication type:
    Case Study
    21

    TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

    Published in:
    Cancers, 2021, v. 13, n. 15, p. 3659, doi. 10.3390/cancers13153659
    By:
    • Lesueur, Fabienne;
    • Eon-Marchais, Séverine;
    • Bonnet-Boissinot, Sarah;
    • Beauvallet, Juana;
    • Dondon, Marie-Gabrielle;
    • Golmard, Lisa;
    • Rouleau, Etienne;
    • Garrec, Céline;
    • Martinez, Mathilde;
    • Toulas, Christine;
    • Nguyen, Tan Dat;
    • Brayotel, Fanny;
    • Crivelli, Louise;
    • Maugard, Christine M.;
    • Bubien, Virginie;
    • Sevenet, Nicolas;
    • Gesta, Paul;
    • Chieze-Valero, Stéphanie;
    • Nambot, Sophie;
    • Goussot, Vincent
    Publication type:
    Article
    22

    High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer.

    Published in:
    Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01885-1
    By:
    • Schwartz, Mathias;
    • Ibadioune, Sabrina;
    • Delhomelle, Hélène;
    • Barraud, Solenn;
    • Caputo, Sandrine M.;
    • Trabelsi-Grati, Olfa;
    • Villy, Marie-Charlotte;
    • Laugé, Anthony;
    • Tang, Roseline;
    • Rouleau, Etienne;
    • Mouret-Fourme, Emmanuelle;
    • Stoppa-Lyonnet, Dominique;
    • Pasmant, Éric;
    • Golmard, Lisa;
    • Colas, Chrystelle;
    • Bièche, Ivan
    Publication type:
    Article
    23

    Germline mutation in the RAD51B gene confers predisposition to breast cancer.

    Published in:
    2013
    By:
    • Golmard, Lisa;
    • Caux-Moncoutier, Virginie;
    • Davy, Grégoire;
    • Al Ageeli, Essam;
    • Poirot, Brigitte;
    • Tirapo, Carole;
    • Michaux, Dorothée;
    • Barbaroux, Catherine;
    • Dubois d'Enghien, Catherine;
    • Nicolas, André;
    • Castera, Laurent;
    • Sastre-Garau, Xavier;
    • Stern, Marc-Henri;
    • Houdayer, Claude;
    • Stoppa-Lyonnet, Dominique;
    • d'Enghien, Catherine Dubois;
    • Castéra, Laurent
    Publication type:
    journal article
    24
    25

    Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.

    Published in:
    Breast Cancer Research & Treatment, 2022, v. 192, n. 2, p. 375, doi. 10.1007/s10549-021-06445-8
    By:
    • Saghatchian, Mahasti;
    • Abehsera, Marc;
    • Yamgnane, Amina;
    • Geyl, Caroline;
    • Gauthier, Emilien;
    • Hélin, Valérie;
    • Bazire, Matéo;
    • Villoing-Gaudé, Laure;
    • Reyes, Cécile;
    • Gentien, David;
    • Golmard, Lisa;
    • Stoppa-Lyonnet, Dominique
    Publication type:
    Article
    26

    Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.

    Published in:
    2021
    By:
    • Callens, Céline;
    • Vaur, Dominique;
    • Soubeyran, Isabelle;
    • Rouleau, Etienne;
    • Just, Pierre-Alexandre;
    • Guillerm, Erell;
    • Golmard, Lisa;
    • Goardon, Nicolas;
    • Sevenet, Nicolas;
    • Cabaret, Odile;
    • Harter, Philipp;
    • Gonzalez-Martin, Antonio;
    • Fujiwara, Keiichi;
    • Cecere, Sabrina Chiara;
    • Colombo, Nicoletta;
    • Marth, Christian;
    • Vergote, Ignace;
    • Maenpaa, Johanna;
    • Pujade-Lauraine, Eric;
    • Ray-Coquard, Isabelle
    Publication type:
    journal article
    27

    Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

    Published in:
    2018
    By:
    • Walpole, Sebastian;
    • Pritchard, Antonia L;
    • Cebulla, Colleen M;
    • Pilarski, Robert;
    • Stautberg, Meredith;
    • Davidorf, Frederick H;
    • Fouchardière, Arnaud de la;
    • Cabaret, Odile;
    • Golmard, Lisa;
    • Stoppa-Lyonnet, Dominique;
    • Garfield, Erin;
    • Njauw, Ching-Ni;
    • Cheung, Mitchell;
    • Turunen, Joni A;
    • Repo, Pauliina;
    • Järvinen, Reetta-Stiina;
    • Doorn, Remco van;
    • Jager, Martine J;
    • Luyten, Gregorius P M;
    • Marinkovic, Marina
    Publication type:
    journal article
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