Not logged in Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries Mougel, Gregory; Mohamed, Amira; Burnichon, Nelly; Giraud, Sophie; Pigny, Pascal; Bressac-de Paillerets, Brigitte; Mirebeau-Prunier, Delphine; Buffet, Alexandre; Savagner, Frederique; Romanet, Pauline; Arlot, Yannick; Gardie, Betty; Gimenez-Roqueplo, Anne-Paule; Beroud, Christophe; Richard, Stephane; Barlier, Anne Share Save
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I Sebai, Molka; Tulasne, David; Caputo, Sandrine M.; Verkarre, Virginie; Fernandes, Marie; Guerin, Celia; Reinhart, Fanny; Adams, Severine; Maugard, Christine; Caron, Olivier; Guillaud-Bataille, Marine; Berthet, Pascaline; Bignon, Yves-Jean; Bressac-de Paillerets, Brigitte; Burnichon, Nelly; Chiesa, Jean; Giraud, Sophie; Lejeune, Sophie; Limacher, Jean-Marc; de Pauw, Antoine; Stoppa-Lyonnet, Dominique; Zattara-Cannoni, Helene; Deveaux, Sophie; Lidereau, Rosette; Richard, Stephane; Rouleau, Etienne Share Save
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach Caputo, Sandrine M.; Golmard, Lisa; Leone, Melanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Francoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noemie; Schwartz, Mathias; Vilquin, Paul; Garrec, Celine; Privat, Maud; Gay-Bellile, Mathilde; Abadie, Caroline; Abidallah, Khadija; Airaud, Fabrice; Allary, Anne-Sophie; Barouk-Simonet, Emmanuelle; Belotti, Muriel; Benigni, Charlotte; Benusiglio, Patrick R.; Berthemin, Christelle; Berthet, Pascaline; Bertrand, Ophelie; Bezieau, Stephane; Bidart, Marie; Bignon, Yves-Jean; Birot, Anne-Marie; Blanluet, Maud; Bloucard, Amelie; Bombled, Johny; Bonadona, Valerie; Bonnet, Francoise; Bonnet-Dupeyron, Marie-Noelle; Boulaire, Manon; Boulouard, Flavie; Bouras, Ahmed; Bourdon, Violaine; Brahimi, Afane; Brayotel, Fanny; de Paillerets, Brigitte Bressac; Bronnec, Noemie; Bubien, Virginie; Buecher, Bruno; Cabaret, Odile; Carriere, Jennifer; Chiesa, Jean; Chieze-Valero, Stephanie; Cohen, Camille; Cohen-Haguenauer, Odile; Colas, Chrystelle; Collonge-Rame, Marie-Agnes; Conoy, Anne-Laure; Coulet, Florence; Coupier, Isabelle; Crivelli, Louise; Cusin, Veronica; De Pauw, Antoine; Dehainault, Catherine; Delhomelle, Helene; Delnatte, Capucine; Demontety, Sophie; Denizeau, Philippe; Devulder, Pierre; Dreyfus, Helene; D'Enghein, Catherine Dubois; Dupre, Anais; Durlach, Anne; Dussart, Sophie; Fajac, Anne; Fekairi, Samira; Fert-Ferrer, Sandra; Fievet, Alice; Fouillet, Robin; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Goldbarg, Veronica; Goussot, Vincent; Guibert, Virginie; Guillerm, Erell; Guy, Christophe; Hardouin, Agnes; Heude, Celine; Houdayer, Claude; Ingster, Olivier; Jacquot-Sawka, Caroline; Jones, Natalie; Krieger, Sophie; Lacoste, Sofiane; Lallaoui, Hakima; Larbre, Helene; Lauge, Anthony; Le Guyadec, Gabrielle; Le Mentec, Marine; Lecerf, Caroline; Le Gall, Jessica; Legendre, Berengere; Legrand, Clementine; Legros, Angelina; Lejeune, Sophie; Lidereau, Rosette; Lignon, Norbert; Limacher, Jean-Marc; Livon, Doriane; Lizard, Sarab; Longy, Michel; Lortholary, Alain; Macquere, Pierre; Mailliez, Audrey; Malsa, Sarah; Margot, Henri; Mari, Veronique; Maugard, Christine; Meira, Cindy; Menjard, Julie; Moliere, Diane; Moncoutier, Virginie; Moretta-Serra, Jessica; Muller, Etienne; Neviere, Zoe; Tuan, Thien-vu Nguyen Minh; Noguchi, Tetsuro; Nogues, Catherine; Oca, Florine; Popovici, Cornel; Prieur, Fabienne; Raad, Sabine; Rey, Jean-Marc; Ricou, Agathe; Salle, Lucie; Saule, Claire; Sevenet, Nicolas; Simaga, Fatoumata; Sobol, Hagay; Suybeng, Voreak; Tennevet, Isabelle; Tenreiro, Henrique; Tinat, Julie; Toulas, Christine; Turbiez, Isabelle; Uhrhammer, Nancy; Vande Perre, Pierre; Vaur, Dominique; Venat, Laurence; Viellard, Nicolas; Villy, Marie-Charlotte; Warcoin, Mathilde; Yvard, Alice; Zattara, Helene; Caron, Olivier; Lasset, Christine; Remenieras, Audrey; Boutry-Kryza, Nadia; Castera, Laurent; Stoppa-Lyonnet, Dominique Share Save
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma Carril-Ajuria, Lucia; Colomba, Emeline; Cerbone, Luigi; Romero-Ferreiro, Carmen; Crouzet, Laurence; Laguerre, Brigitte; Thibault, Constance; Vicier, Cecile; de Velasco, Guillermo; Flechon, Aude; Saldana, Carolina; Benusiglio, Patrick R.; Bressac-de Paillerets, Brigitte; Guillaud-Bataille, Marine; Gaignard, Pauline; Scoazec, Jean-Yves; Richard, Stephane; Caron, Olivier; Escudier, Bernard; Albiges, Laurence Share Save
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FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells Habel, Nadia; El-Hachem, Najla; Soysouvanh, Frederic; Hadhiri-Bzioueche, Hanene; Giuliano, Serena; Nguyen, Sophie; Horak, Pavel; Gay, Anne-Sophie; Debayle, Delphine; Nottet, Nicolas; Beranger, Guillaume; Bressac-de Paillerets, Brigitte; Bertolotto, Corine; Ballotti, Robert Share Save
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Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma Buffet, Alexandre; Calsina, Bruna; Flores, Shahida; Giraud, Sophie; Lenglet, Marion; Romanet, Pauline; Deflorenne, Elisa; Aller, Javier; Bourdeau, Isabelle; Bressac-de Paillerets, Brigitte; Calatayud, Maria; Dehais, Caroline; De Mones Del Pujol, Erwan; Elenkova, Atanaska; Herman, Philippe; Kamenicky, Peter; Lejeune, Sophie; Sadoul, Jean Louis; Barlier, Anne; Richard, Stephane; Favier, Judith; Burnichon, Nelly; Gardie, Betty; Dahia, Patricia L.; Robledo, Mercedes; Gimenez-Roqueplo, Anne-Paule Share Save
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018) Leman, Raphael; Gaildrat, Pascaline; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude Share Save
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT Taylor, Nicholas J.; Mitra, Nandita; Qian, Lu; Avril, Marie-Francoise; Bishop, D. Timothy; Bressac-de Paillerets, Brigitte; Bruno, William; Calista, Donato; Cuellar, Francisco; Cust, Anne E.; Demenais, Florence; Elder, David E.; Gerdes, Anne-Marie; Ghiorzo, Paola; Goldstein, Alisa M.; Grazziotin, Thais C.; Gruis, Nelleke A.; Hansson, Johan; Harland, Mark; Hayward, Nicholas K.; Hocevar, Marko; Hoiom, Veronica; Holland, Elizabeth A.; Ingvar, Christian; Landi, Maria Teresa; Landman, Gilles; Larre-Borges, Alejandra; Mann, Graham J.; Nagore, Eduardo; Olsson, Hakan; Palmer, Jane M.; Peric, Barbara; Pjanova, Dace; Pritchard, Antonia L.; Puig, Susana; Schmid, Helen; van der Stoep, Nienke; Tucker, Margaret A.; Wadt, Karin A. W.; Yang, Xiaohong R.; Newton-Bishop, Julia A.; Kanetsky, Peter A. Share Save
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort Pellegrini, Cristina; Botta, Francesca; Massi, Daniela; Martorelli, Claudia; Facchetti, Fabio; Gandini, Sara; Maisonneuve, Patrick; Avril, Marie-Francoise; Demenais, Florence; Bressac-de Paillerets, Brigitte; Hoiom, Veronica; Cust, Anne E.; Anton-Culver, Hoda; Gruber, Stephen B.; Gallagher, Richard P.; Marrett, Loraine; Zanetti, Roberto; Dwyer, Terence; Thomas, Nancy E.; Begg, Colin B.; Berwick, Marianne; Puig, Susana; Potrony, Miriam; Nagore, Eduardo; Ghiorzo, Paola; Menin, Chiara; Manganoni, Ausilia Maria; Rodolfo, Monica; Brugnara, Sonia; Passoni, Emanuela; Sekulovic, Lidija Kandolf; Baldini, Federica; Guida, Gabriella; Stratigos, Alexandros; Ozdemir, Fezal; Ayala, Fabrizio; Fernandez-de-Misa, Ricardo; Quaglino, Pietro; Ribas, Gloria; Romanini, Antonella; Migliano, Emilia; Stanganelli, Ignazio; Kanetsky, Peter A.; Antonietta Pizzichetta, Maria; Garcia-Borron, Jose Carlos; Nan, Hongmei; Landi, Maria Teresa; Little, Julian; Newton-Bishop, Julia; Sera, Francesco; Fargnoli, Maria Concetta; Raimondi, Sara; Massi, Daniela; Pastorino, Lorenza; Menin, Chiara; Alaibac, Mauro; Manganoni, Ausilia Maria; Facchetti, Fabio; Rodolfo, Monica; Ferrari, Andrea; Valeri, Barbara; Fargnoli, Maria Concetta; Pellegrini, Cristina; Brugnara, Sonia; Sicher, Mariacristina; Mangiola, Daniela; Passoni, Emanuela; Nazzaro, Gianluca; Baldini, Federica; Tosti, Giulio; Gandini, Sara; Mazzarol, Giovanni; Guida, Gabriella; Guida, Stefania; Giudice, Giuseppe; Ayala, Fabrizio; Quaglino, Pietro; Ribero, Simone; Astrua, Chiara; Romanini, Antonella; Migliano, Emilia; Stanganelli, Ignazio; Mazzoni, Laura; Pizzichetta, Maria Antonietta; Berwick, Marianne; Begg, Colin; Orlow, Irene; Mujumdar, Urvi; Hummer, Amanda; Busam, Klaus; Roy, Pampa; Cotignola, Javiar; Monroe, Yvette; Armstrong, Bruce; Kricker, Anne; Litchfield, Melisa; Tucker, Paul; Stephens, Nicola; Gallagher, Richard; Switzer, Teresa; Marrett, Loraine; Theis, Beth; From, Lynn; Chowdhury, Noori; Vanasse, Louise; Purdue, Mark; Northrup, David; Zanetti, Roberto; Rosso, Stefano; Sacerdote, Carlotta; Anton-Culver, Hoda; Leighton, Nancy; Gildea, Maureen; Gruber, Stephen; Bonner, Joe; Jeter, Joanne; Klotz, Judith; Wilcox, Homer; Weiss, Helen; Millikan, Robert; Thomas, Nancy; Mattingly, Dianne; Player, Jon; Tse, Chiu-Kit; Rebbeck, Timothy; Kanetsky, Peter; Walker, Amy; Panossian, Saarene; Mohrenweiser, Harvey; Setlow, Richard; Raimondi, Sara; Autier, Philippe; Fargnoli, Maria Concetta; Kanetsky, Peter A.; Landi, Maria Teresa; Little, Julian; Newton-Bishop, Julia; Sera, Francesco; Caini, Saverio; Gandini, Sara; Maisonneuve, Patrick; Hofman, Albert; Kayser, Manfred; Liu, Fan; Nijsten, Tamar; Uitterlinden, Andre G.; Kumar, Rajiv; Bishop, Tim; Elliott, Faye; Nagore, Eduardo; Lazovich, DeAnn; Polsky, David; Hansson, Johan; Hoiom, Veronica; Ghiorzo, Paola; Pastorino, Lorenza; Gruis, Nelleke A.; Bavinck, Jan Nico Bouwes; Aguilera, Paula; Badenas, Celia; Carrera, Cristina; Gimenez-Xavier, Pol; Tell-Marti, Gemma; Dwyer, Terence; Blizzard, Leigh; Cochrane, Jennifer; Branicki, Wojciech; Debniak, Tadeusz; Morling, Niels; Johansen, Peter; Mayne, Susan; Bale, Allen; Cartmel, Brenda; Ferrucci, Leah; Pfeiffer, Ruth; Palmieri, Giuseppe; Ribas, Gloria; Menin, Chiara; Stratigos, Alexandros; Kypreou, Katerina; Bowcock, Anne; Cornelius, Lynn; Council, M. Laurin; Motokawa, Tomonori; Anno, Sumiko; Helsing, Per; Andresen, Per Arne; Guida, Gabriella; Guida, Stefania; Wong, Terence H. Share Save
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods Coppin, Lucie; Plouvier, Pascal; Crepin, Michel; Jourdain, Anne-Sophie; Yahya, Emilie Ait; Richard, Stephane; Bressac-de Paillerets, Brigitte; Cardot-Bauters, Catherine; Lejeune, Sophie; Leclerc, Julie; Pigny, Pascal Share Save
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma Wong, Kim; Robles-Espinoza, Carla Daniela; Rodriguez, David; Rudat, Saskia S.; Puig, Susana; Potrony, Miriam; Wong, Chi C.; Hewinson, James; Aguilera, Paula; Puig-Butille, Joan Anton; Bressac-de Paillerets, Brigitte; Zattara, Helene; van der Weyden, Louise; Fletcher, Christopher D. M.; Brenn, Thomas; Arends, Mark J.; Quesada, Victor; Newton-Bishop, Julia A.; Lopez-Otin, Carlos; Bishop, D. Timothy; Harms, Paul W.; Johnson, Timothy M.; Durham, Alison B.; Lombard, David B.; Adams, David J. Share Save
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide Walpole, Sebastian; Pritchard, Antonia L.; Cebulla, Colleen M.; Pilarski, Robert; Stautberg, Meredith; Davidorf, Frederick H.; de la Fouchardiere, Arnaud; Cabaret, Odile; Golmard, Lisa; Stoppa-Lyonnet, Dominique; Garfield, Erin; Njauw, Ching-Ni; Cheung, Mitchell; Turunen, Joni A.; Repo, Pauliina; Jarvinen, Reetta-Stiina; van Doorn, Remco; Jager, Martine J.; Luyten, Gregorius P. M.; Marinkovic, Marina; Chau, Cindy; Potrony, Miriam; Hoiom, Veronica; Helgadottir, Hildur; Pastorino, Lorenza; Bruno, William; Andreotti, Virginia; Dalmasso, Bruna; Ciccarese, Giulia; Queirolo, Paola; Mastracci, Luca; Wadt, Karin; Kiilgaard, Jens Folke; Speicher, Michael R.; van Poppelen, Natasha; Kilic, Emine; Al-Jamal, Rana'a T.; Dianzani, Irma; Betti, Marta; Bergmann, Carsten; Santagata, Sandro; Dahiya, Sonika; Taibjee, Saleem; Burke, Jo; Poplawski, Nicola; O'Shea, Sally J.; Newton-Bishop, Julia; Adlard, Julian; Adams, David J.; Lane, Anne-Marie; Kim, Ivana; Klebe, Sonja; Racher, Hilary; Harbour, J. William; Nickerson, Michael L.; Murali, Rajmohan; Palmer, Jane M.; Howlie, Madeleine; Symmons, Judith; Hamilton, Hayley; Warrier, Sunil; Glasson, William; Johansson, Peter; Robles-Espinoza, Carla Daniela; Ossio, Raul; de Klein, Annelies; Puig, Susana; Ghiorzo, Paola; Nielsen, Maartje; Kivela, Tero T.; Tsao, Hensin; Testa, Joseph R.; Gerami, Pedram; Stern, Marc-Henri; Bressac-de Paillerets, Brigitte; Abdel-Rahman, Mohamed H.; Hayward, Nicholas K. Share Save
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers Lesueur, Fabienne; Mebirouk, Noura; Jiao, Yue; Barjhoux, Laure; Belotti, Muriel; Laurent, Maite; Leone, Melanie; Houdayer, Claude; Bressac-de Paillerets, Brigitte; Vaur, Dominique; Sobol, Hagay; Nogues, Catherine; Longy, Michel; Mortemousque, Isabelle; Fert-Ferrer, Sandra; Mouret-Fourme, Emmanuelle; Pujol, Pascal; Venat-Bouvet, Laurence; Bignon, Yves-Jean; Leroux, Dominique; Coupier, Isabelle; Berthet, Pascaline; Mari, Veronique; Delnatte, Capucine; Gesta, Paul; Collonge-Rame, Marie-Agnes; Giraud, Sophie; Bonadona, Valerie; Baurand, Amandine; Faivre, Laurence; Buecher, Bruno; Lasset, Christine; Gauthier-Villars, Marion; Damiola, Francesca; Mazoyer, Sylvie; Caputo, Sandrine M.; Andrieu, Nadine; Stoppa-Lyonnet, Dominique Share Save
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018) Leman, Raphael; Gaildrat, Pascaline; Gac, Gerald L.; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude Share Save
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations Pujol, Pascal; Vande Perre, Pierre; Faivre, Laurence; Sanlaville, Damien; Corsini, Carole; Baertschi, Bernard; Anahory, Michele; Vaur, Dominique; Olschwang, Sylviane; Soufir, Nadem; Bastide, Noelle; Amar, Sarah; Vintraud, Michele; Ingster, Olivier; Richard, Stephane; Le Coz, Pierre; Spano, Jean-Philippe; Caron, Olivier; Hammel, Pascal; Luporsi, Elisabeth; Toledano, Alain; Rebillard, Xavier; Cambon-Thomsen, Anne; Putois, Olivier; Rey, Jean-Marc; Herve, Christian; Zorn, Caroline; Baudry, Karen; Galibert, Virginie; Gligorov, Joseph; Azria, David; Bressac-de Paillerets, Brigitte; Burnichon, Nelly; Spielmann, Marc; Zarca, Daniel; Coupier, Isabelle; Cussenot, Olivier; Gimenez-Roqueplo, Anne-Paule; Giraud, Sophie; Lapointe, Anne-Sophie; Niccoli, Patricia; Raingeard, Isabelle; Le Bidan, Muriel; Frebourg, Thierry; Rafii, Arash; Genevieve, David Share Save
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration Muller, Marie; Guillaud-Bataille, Marine; Salleron, Julia; Genestie, Catherine; Deveaux, Sophie; Slama, Abdelhamid; de Paillerets, Brigitte Bressac; Richard, Stephane; Benusiglio, Patrick R.; Ferlicot, Sophie Share Save
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort Leman, Raphael; Gaildrat, Pascaline; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude Share Save
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