AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer

Authors: Leclerc, Julie, Beaumont, Marie, Vibert, Roseline, Pinson, Stéphane, Vermaut, Catherine, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Demay, Christophe, Coulet, Florence, Guillerm, Erell, Hamzaoui, Nadim, Benusiglio, Patrick R., Brahimi, Afane, Cornelis, François, Delhomelle, Hélène, Fert‐Ferrer, Sandra, Fournier, Benjamin P. J., Hovnanian, Alain, Legrand, Clémentine, Lortholary, Alain, Malka, David, Petit, Florence, Saurin, Jean‐Christophe, Lejeune, Sophie, Colas, Chrystelle, Buisine, Marie‐Pierre

Source: Genes, chromosomes & cancer. 62(4):210-222

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173644539.0x000001&indx=1&recIds=ETOCvdc_100173644539.0x000001

A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome

Authors: Legrand, Clémentine, Lebrun, Marine, Naïbo, Pierre, Peysselon, Magalie, Prieur, Fabienne, Kientz, Caroline, Desseigne, Françoise, Handallou, Sandrine, Rey, Jean-Marc, Nambot, Sophie, Goussot, Vincent, Hamzaoui, Nadim, Wang, Qing

Source: In European Journal of Medical Genetics February 2022 65(2)

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

Authors: 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, Tlemsani, Camille, Toulas, Christine, Rey, Jean‐Marc, Uhrhammer, Nancy, Bougeard, Gaëlle, Frebourg, Thierry, Houdayer, Claude, Baert‐Desurmont, Stéphanie

Source: Clinical genetics. 99(5):662-672

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119171115.0x000001&indx=1&recIds=ETOCvdc_100119171115.0x000001

Efficacy and Safety of Immune Checkpoint Blockade in Patients With Li-Fraumeni Syndrome.

Authors: Bottosso, Michele, Verret, Benjamin, Caron, Olivier, Hamzaoui, Nadim, Pasmant, Eric, Danlos, Francois-Xavier, Boudou-Rouquette, Pascaline, Srikaran, Arunya, Blons, Hélène, Guarneri, Valentina, Loi, Sherene, André, Fabrice, Tlemsani, Camille

Source: JCO Precision Oncology; 12/1/2024, Vol. 8, p1-6, 6p

Subject Terms: LI-Fraumeni syndrome, IMMUNE checkpoint proteins, SAFETY

Syndrome de polypose associée aux ADN polymérases ε (POLE) et δ (POLD1).

Authors: Dhooge, Marion¹ (AUTHOR) marion.dhooge@aphp.fr, Hamzaoui, Nadim² (AUTHOR)

Source: Hépato-Gastro & Oncologie Digestive. nov2024, Vol. 31 Issue 9, p997-1002. 6p.

Subject Terms: *DNA polymerases, *FAMILY history (Medicine), *GENETIC variation, *ADENOMA, *SYNDROMES

A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.

Authors: Mouren, Adrien, Chansavang, Albain, Hamzaoui, Nadim, Srikaran, Arunya, Laurent-Puig, Pierre, Marisa, Laetitia, De Percin, Sixtine, Lupo, Audrey, Larousserie, Frédérique, Blons, Hélène, L'Haridon, Anais, Burnichon, Nelly, Pasmant, Eric, Tlemsani, Camille

Source: Familial Cancer; Nov2024, Vol. 23 Issue 4, p627-634, 8p

Subject Terms: HOMOLOGOUS recombination, WHOLE genome sequencing, PAN-genome, BRCA genes, MOSAICISM

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction

Authors: Hamzaoui, Nadim, Alarcon, Flora, Leulliot, Nicolas, Guimbaud, Rosine, Buecher, Bruno, Colas, Chrystelle, Corsini, Carole, Nuel, Gregory, Terris, Benoît, Laurent-Puig, Pierre, Chaussade, Stanislas, Dhooge, Marion, Madru, Clément, Clauser, Eric

Source: In Genetics in Medicine September 2020 22(9):1533-1541

Missense pathogenic variants in the exonuclease domain of polymerases Polε and Polδ in cancer: The risk of infidelity

Authors: Chansavang, Albain, Rousseau, Benoit, Leulliot, Nicolas, Masliah-Planchon, Julien, Bièche, Ivan, Pasmant, Éric, Hamzaoui, Nadim

Source: M/S. 38(10):763-765

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN630299274&indx=1&recIds=ETOCRN630299274

Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome.

Authors: Guerrini-Rousseau, Lea, Merlevede, Jane, Denizeau, Philippe, Andreiuolo, Felipe, Varlet, Pascale, Puget, Stéphanie, Beccaria, Kevin, Blauwblomme, Thomas, Cabaret, Odile, Hamzaoui, Nadim, Bourdeaut, Franck, Faure-Conter, Cécile, Muleris, Martine, Colas, Chrystelle, Beaumais, Tiphaine Adam de, Castel, David, Rouleau, Etienne, Brugières, Laurence, Grill, Jacques, Debily, Marie-Anne

Source: Neuro-Oncology Advances; Jan-Dec2024, Vol. 6 Issue 1, p1-13, 13p

MSH3: a confirmed predisposing gene for adenomatous polyposis.

Authors: Villy, Marie-Charlotte, Masliah-Planchon, Julien, Schnitzler, Anne, Delhomelle, Hélène, Buecher, Bruno, Filser, Mathilde, Merchadou, Kevin, Golmard, Lisa, Melaabi, Samia, Vacher, Sophie, Blanluet, Maud, Suybeng, Voreak, Corsini, Carole, Dhooge, Marion, Hamzaoui, Nadim, Farelly, Solenne, Omar, Amal Ait, Benamouzig, Robert, Caumette, Vincent, Bahuau, Michel

Source: Journal of Medical Genetics; Dec2023, Vol. 60 Issue 12, p1198-1205, 8p

Cyclooxygenase-2 Inhibitors Down-regulate Osteopontin and Nr4a2—New Therapeutic Targets for Colorectal Cancers

Authors: Zagani, Rachid, Hamzaoui, Nadim, Cacheux, Wulfran, de Reyniès, Aurélien, Terris, Benoît, Chaussade, Stanislas, Romagnolo, Béatrice, Perret, Christine, Lamarque, Dominique

Source: In Gastroenterology 2009 137(4):1358-1366

Metastatic Malignant Perivascular Epithelioid Cell Tumors With Microsatellite Instability Within Lynch Syndrome Successfully Treated With Anti-PD1 Pembrolizumab.

Authors: Djerroudi, Lounes, Masliah-Planchon, Julien, Brisse, Hervé J., El Zein, Sophie, Helfre, Sylvie, Tzanis, Dimitri, Hamzaoui, Nadim, Bonnet, Clément, Laurence, Valérie, Bonvalot, Sylvie, Watson, Sarah

Source: JCO Precision Oncology; 1/30/2023, p1-6, 6p

Subject Terms: CELL tumors, TREATMENT effectiveness, MICROSATELLITE repeats, HEREDITARY nonpolyposis colorectal cancer, PEMBROLIZUMAB, METASTASIS

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.

Authors: Pacot, Laurence, Pelletier, Valerie, Chansavang, Albain, Briand-Suleau, Audrey, Burin des Roziers, Cyril, Coustier, Audrey, Maillard, Theodora, Vaucouleur, Nicolas, Orhant, Lucie, Barbance, Cécile, Lermine, Alban, Hamzaoui, Nadim, Hadjadj, Djihad, Laurendeau, Ingrid, El Khattabi, Laïla, Nectoux, Juliette, Vidaud, Michel, Parfait, Béatrice, Dollfus, Hélène, Pasmant, Eric

Source: Human Genetics; Jan2023, Vol. 142 Issue 1, p1-9, 9p

Subject Terms: WHOLE genome sequencing, NEUROFIBROMATOSIS 1, MOLECULAR diagnosis, COMPARATIVE genomic hybridization, DELETION mutation, DNA copy number variations

Lynch syndrome: influence of additional susceptibility variants on cancer risk

Authors: Vibert, Roseline, Hasnaoui, Jasmine, Perrier, Alexandre, Lefebvre, Alexandra, Colas, Chrystelle, Dhooge, Marion, Basset, Noémie, Chansavang, Albain, Desseignes, Camille, Duval, Alex, Farelly, Solenne, Hamzaoui, Nadim, Laurent-Puig, Pierre, Metras, Julie, Moliere, Diane, Muleris, Martine, Netter, Jeanne, Touat, Mehdi, Bielle, Franck, Labreche, Karim, Nicolle, Romain, Perkins, Géraldine, Warcoin, Mathilde, Coulet, Florence, Benusiglio, Patrick R.

Source: European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-5, 5p

Cancérogenèse et variants faux sens pathogènes du domaine exonucléasique des ADN polymérases ε et δ: Les risques de l'infidélité. (French)

Alternate Title: Missense pathogenic variants in the exonuclease domain of polymerases Polε and Polδ in cancer: The risk of infidelity. (English)

Authors: Chansavang, Albain, Rousseau, Benoit, Leulliot, Nicolas, Masliah-Planchon, Julien, Bièche, Ivan, Pasmant, Éric, Hamzaoui, Nadim

Source: Médecine Sciences; oct2022, Vol. 38 Issue 10, p763-765, 3p

Expression and distribution of β1 integrins in in vitro-induced M cells: implications for Yersinia adhesion to Peyer's patch epithelium.

Authors: Hamzaoui, Nadim¹, Kernéis, Sophie, Caliot, Elise¹, Pringault, Eric¹ epringau@pasteur.fr

Source: Cellular Microbiology. Sep2004, Vol. 6 Issue 9, p817-828. 12p.

Subject Terms: *EPITHELIUM, *YERSINIA, *ENTEROBACTERIACEAE, *INTEGRINS, *GLYCOPROTEINS, *BACTERIAL chromosomes, *ESCHERICHIA coli, *GENE expression

Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma.

Authors: Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, de La Villéon, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther

Source: JAMA Oncology; Oct2019, Vol. 5 Issue 10, p1440-1447, 8p

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.