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

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

解读与TP53致病变异相关的双重临床实体:来自法国实验室53085例HBOC基因检测的启示

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; Buisson, Adrien; Castéra, Laurent; Caron, Olivier; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Derangère, Valentin; Fievet, Alice; Garrec, Céline; Gauthier-Villars, Marion; Gay-Bellile, Mathilde; Goussot, Vincent; le Gall, Jessica; Lepage, Mathis; Lokchine, Anna; Perrier, Alexandre; Rouleau, Etienne; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Ravel, Jean-Marie; Perre, Pierre Vande; Vaur, Dominique; Vilquin, Paul; Bougeard, Gaëlle; Baert-Desurmont, Stéphanie; Thery, Jean-Christophe; Houdayer, Claude

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

PTEN 嵌合体的诊断:额外肿瘤 DNA 测序的相关性。病例报告和文献综述

Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bignon

Prostate cancer and PARP inhibitors: progress and challenges

前列腺癌与PARP抑制剂:进展与挑战

Teyssonneau, Diego; Margot, Henri; Cabart, Mathilde; Anonnay, Mylène; Sargos, Paul; Vuong, Nam-Son; Soubeyran, Isabelle; Sevenet, Nicolas; Roubaud, Guilhem

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

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

在 III 期 PAOLA-1/ENGOT-ov25 试验中,高级别卵巢癌患者的肿瘤和种系 BRCA 状态的一致性

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

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

TUMOSPEC:一项针对携带预测致病变异的遗传性乳腺癌和卵巢癌家族的全国性研究,该研究通过多基因检测进行。

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; Mari, Véronique; Popovici, Cornel; Prieur, Fabienne; Morin-Meschin, Marie-Emmanuelle; Tinat, Julie; Lortholary, Alain; Dreyfus, Hélène; Bidart, Marie; Collonge-Rame, Marie-Agnès; Mozelle-Nivoix, Monique; Gladieff, Laurence; Giraud, Sophie; Boutry-Kryza, Nadia; Chiesa, Jean; Denizeau, Philippe; Bignon, Yves-Jean; Uhrhammer, Nancy; Cohen-Haguenauer, Odile; Vilquin, Paul; Mailliez, Audrey; Coupier, Isabelle; Rey, Jean-Marc; Lacaze, Elodie; Béra, Odile; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Houdayer, Claude; Lasset, Christine; Lemonnier, Jérôme; Longy, Michel; Noguès, Catherine; Stoppa-Lyonnet, Dominique; Vaur, Dominique; Andrieu, Nadine; Caron, Olivier

5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

法国家庭中 BRCA1 基因的 5' 区域大型基因组重排:鉴定出串联三重重复和九个不同缺失以及五个复发性断点

Sandrine M Caputo, Dominique Telly, Adrien Briaux, Julie Sesen, Maurizio Ceppi, Françoise Bonnet, Violaine Bourdon, Florence Coulet, Laurent Castera, Capucine Delnatte, Agnès Hardouin, Sylvie Mazoyer, Inès Schultz, Nicolas Sevenet, Nancy Uhrhammer, Céline Bonnet, Anne-Françoise Tilkin-Mariamé, Claud

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

评估分支点预测工具在预测生理分支点及其受变异影响方面的能力

Leman, Raphaël; Tubeuf, Hélène; Raad, Sabine; Tournier, Isabelle; Derambure, Céline; Lanos, Raphaël; Gaildrat, Pascaline; Castelain, Gaia; Hauchard, Julie; Killian, Audrey; Baert-Desurmont, Stéphanie; Legros, Angelina; Goardon, Nicolas; Quesnelle, Céline; Ricou, Agathe; Castera, Laurent; Vaur, Dominique; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Boutry-Kryza, Nadia; Schultz, Inès; Caux-Moncoutier, Virginie; Rossing, Maria; Walker, Logan C; Spurdle, Amanda B; Houdayer, Claude; Martins, Alexandra; Krieger, Sophie

Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis

通过基因工程改造人类神经上皮干细胞的遗传易感性,可以重现髓母细胞瘤的肿瘤发生过程。

Miller Huang ,Jignesh Tailor ,Qiqi Zhen ,Aaron H Gillmor ,Matthew L Miller ,Holger Weishaupt ,Justin Chen ,Tina Zheng ,Emily K Nash ,Lauren K McHenry ,Zhenyi An ,Fubaiyang Ye ,Yasuhiro Takashima ,James Clarke ,Harold Ayetey ,Florence M G Cavalli ,Betty Luu ,Branden S Moriarity ,Shirin Ilkhanizadeh ,Lukas Chavez ,Chunying Yu ,Kathreena M Kurian ,Thierry Magnaldo ,Nicolas Sevenet ,Philipp Koch ,Steven M Pollard ,Peter Dirks ,Michael P Snyder ,David A Largaespada ,Yoon Jae Cho ,Joanna J Phillips ,Fredrik J Swartling ,A Sorana Morrissy ,Marcel Kool ,Stefan M Pfister ,Michael D Taylor ,Austin Smith ,William A Weiss

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

生殖系SUFU突变携带者与髓母细胞瘤:临床特征、癌症风险和预后

Guerrini-Rousseau, Léa; Dufour, Christelle; Varlet, Pascale; Masliah-Planchon, Julien; Bourdeaut, Franck; Guillaud-Bataille, Marine; Abbas, Rachid; Bertozzi, Anne-Isabelle; Fouyssac, Fanny; Huybrechts, Sophie; Puget, Stéphanie; Bressac-De Paillerets, Brigitte; Caron, Olivier; Sevenet, Nicolas; Dimaria, Marina; Villebasse, Sophie; Delattre, Olivier; Valteau-Couanet, Dominique; Grill, Jacques; Brugières, Laurence