日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition

生殖系致病性DROSHA变异与松果体母细胞瘤和肾母细胞瘤易感性相关

Fiorica, Peter N; Golmard, Lisa; Kim, Jung; Bao, Riyue; Lin, Frank Y; Roy, Angshumoy; Pribnow, Allison; Perrino, Melissa R; Masliah-Planchon, Julien; Michalak-Provost, Sophie; Wong, Jennifer; Filser, Mathilde; Stoppa-Lyonnet, Dominique; Bourdeaut, Franck; Brahimi, Afane; Ingster, Olivier; Saulnier Sholler, Giselle; Jackson, Sarah A; Sasaki, Mark M; Fowler, Trent; Ng, Anita; Corbett, Ryan J; Kaufman, Rebecca S; Haley, Jeremy S; Carey, David J; Huang, Kuan-Lin; Diskin, Sharon J; Rokita, Jo Lynne; Al-Kateb, Hussam; McGee, Rose B; Schiffman, Joshua D; Chen, Kenneth S; Stewart, Douglas R; Williams Parsons, D; Plon, Sharon E; Schultz, Kris Ann P; Onel, Kenan

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors

SMARCB1变异的合子后嵌合现象在横纹肌样瘤患者中的表现:一种并非罕见的、易导致肿瘤连续发生的疾病

Thomson, Grégory; Filser, Mathilde; Guerrini-Rousseau, Léa; Tauziede-Espariat, Arnault; Bourneix, Christine; Gauthier-Villars, Marion; Simaga, Fatoumata; Beccaria, Kévin; Faure-Conter, Cécile; Maureille, Aurélien; Zattara-Cannoni, Hélène; Andre, Nicolas; Entz-Werle, Natacha; Brugieres, Laurence; Mansuy, Ludovic; Denizeau, Philippe; Julia, Sophie; Ingster, Olivier; Lejeune, Sophie; Brahimi, Afane; Coupier, Isabelle; Bonadona, Valérie; Delattre, Olivier; Masliah-Planchon, Julien; Bourdeaut, Franck

Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

髓母细胞瘤伴ELP1致病变异:一种低外显率综合征,其发病年龄范围有限。

Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Filser, Mathilde; Tauziède-Espariat, Arnault; Entz-Werle, Natacha; Maugard, Christine M; Hopman, Saskia M J; Torrejon, Jacob; Gauthier-Villars, Marion; Simaga, Fatoumata; Blauwblomme, Thomas; Beccaria, Kevin; Rouleau, Etienne; Dimaria, Marina; Grill, Jacques; Abbou, Samuel; Claret, Béatrice; Brugières, Laurence; Doz, François; Bouchoucha, Yassine; Faure-Conter, Cécile; Bonadona, Valerie; Mansuy, Ludovic; de Carli, Emilie; Ingster, Olivier; Legrand, Clémentine; Pagnier, Anne; Berthet, Pascaline; Bodet, Damien; Julia, Sophie; Bertozzi, Anne-Isabelle; Wilems, Marjolaine; Maurage, Claude-Alain; Delattre, Olivier; Ayrault, Olivier; Dufour, Christelle; Bourdeaut, Franck

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

通过共分离研究对101个意义未明的BRCA1和BRCA2变异进行分类:一种有效的方法

Caputo, Sandrine M; Golmard, Lisa; Léone, Mélanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Françoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noémie; 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; Bézieau, Stéphane; Bidart, Marie; Bignon, Yves-Jean; Birot, Anne-Marie; Blanluet, Maud; Bloucard, Amelie; Bombled, Johny; Bonadona, Valerie; Bonnet, Françoise; Bonnet-Dupeyron, Marie-Noëlle; Boulaire, Manon; Boulouard, Flavie; Bouras, Ahmed; Bourdon, Violaine; Brahimi, Afane; Brayotel, Fanny; Bressac de Paillerets, Brigitte; Bronnec, Noémie; Bubien, Virginie; Buecher, Bruno; Cabaret, Odile; Carriere, Jennifer; Chiesa, Jean; Chieze-Valéro, Stephanie; Cohen, Camille; Cohen-Haguenauer, Odile; Colas, Chrystelle; Collonge-Rame, Marie-Agnès; Conoy, Anne-Laure; Coulet, Florence; Coupier, Isabelle; Crivelli, Louise; Cusin, Véronica; De Pauw, Antoine; Dehainault, Catherine; Delhomelle, Hélène; Delnatte, Capucine; Demontety, Sophie; Denizeau, Philippe; Devulder, Pierre; Dreyfus, Helene; d'Enghein, Catherine Dubois; Dupré, Anaïs; Durlach, Anne; Dussart, Sophie; Fajac, Anne; Fekairi, Samira; Fert-Ferrer, Sandra; Fiévet, 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, Agnès; Heude, Céline; Houdayer, Claude; Ingster, Olivier; Jacquot-Sawka, Caroline; Jones, Natalie; Krieger, Sophie; Lacoste, Sofiane; Lallaoui, Hakima; Larbre, Helene; Laugé, Anthony; Le Guyadec, Gabrielle; Le Mentec, Marine; Lecerf, Caroline; Le Gall, Jessica; Legendre, Bérengère; Legrand, Clémentine; Legros, Angélina; Lejeune, Sophie; Lidereau, Rosette; Lignon, Norbert; Limacher, Jean-Marc; Doriane Livon; Lizard, Sarab; Longy, Michel; Lortholary, Alain; Macquere, Pierre; Mailliez, Audrey; Malsa, Sarah; Margot, Henri; Mari, Véronique; Maugard, Christine; Meira, Cindy; Menjard, Julie; Molière, Diane; Moncoutier, Virginie; Moretta-Serra, Jessica; Muller, Etienne; Nevière, Zoe; Nguyen Minh Tuan, Thien-Vu; Noguchi, Tetsuro; Noguès, 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; Castéra, Laurent; Stoppa-Lyonnet, Dominique

Blood functional assay for rapid clinical interpretation of germline TP53 variants

血液功能检测用于快速临床解释种系 TP53 变异

Sabine Raad #, Marion Rolain #, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur, Michael Farrell, Olivier Ingster, Stéphanie Baert Desurmont, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Isabelle To

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

癌症基因基因组测序次要发现报告指南:SFMPP建议

Pujol, Pascal; Vande Perre, Pierre; Faivre, Laurence; Sanlaville, Damien; Corsini, Carole; Baertschi, Bernard; Anahory, Michèle; Vaur, Dominique; Olschwang, Sylviane; Soufir, Nadem; Bastide, Noëlle; Amar, Sarah; Vintraud, Michèle; Ingster, Olivier; Richard, Stéphane; Le Coz, Pierre; Spano, Jean-Philippe; Caron, Olivier; Hammel, Pascal; Luporsi, Elisabeth; Toledano, Alain; Rebillard, Xavier; Cambon-Thomsen, Anne; Putois, Olivier; Rey, Jean-Marc; Hervé, 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; Geneviève, David

Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3

在低至中等发病率国家改进皮肤黑色素瘤基因检测:2 法则与 3 法则

Delaunay, Juliette; Martin, Ludovic; Bressac-de Paillerets, Brigitte; Duru, Gerard; Ingster, Olivier; Thomas, Luc

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles

评估罕见UNC5C等位基因带来的结直肠癌风险

Küry, Sébastien; Garrec, Céline; Airaud, Fabrice; Breheret, Flora; Guibert, Virginie; Frenard, Cécile; Jiao, Shuo; Bonneau, Dominique; Berthet, Pascaline; Bossard, Céline; Ingster, Olivier; Cauchin, Estelle; Bezieau, Stéphane

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

林奇综合征患者中发现新生种系MLH1突变,免疫组化和分子生物学检测结果不一致

Airaud, Fabrice; Küry, Sébastien; Valo, Isabelle; Maury, Ingrid; Bonneau, Dominique; Ingster, Olivier; Bezieau, Stéphane

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

分子顶泌分化是种系 PTEN 突变乳腺癌患者的共同特征

Guillaume Banneau, Mickaël Guedj, Gaëtan MacGrogan, Isabelle de Mascarel, Valerie Velasco, Renaud Schiappa, Valerie Bonadona, Albert David, Catherine Dugast, Brigitte Gilbert-Dussardier, Olivier Ingster, Pierre Vabres, Frederic Caux, Aurelien de Reynies, Richard Iggo, Nicolas Sevenet, Françoise Bonn