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

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

BRCA1 基因的创始外显子重复,其断点位于 T2T 参考基因组特异性区域,导致产生构成性融合转录本。

Schwartz, Mathias; Filser, Mathilde; Merchadou, Kevin; Lemaitre, Elisa; Abidallah, Khadija; Tenreiro, Henrique; Dubois D'enghien, Catherine; Rapinat, Audrey; Pierre-Noel, Elise; Suybeng, Voreak; Espenel, Marion; Baulande, Sylvain; Adams, Séverine; Remenieras, Audrey; Renaud, Crystal; Aucouturier, Camille; Delnatte, Capucine; Garrec, Céline; Renault, Victor; Golmard, Lisa; Fourme, Emmanuelle; Masliah-Planchon, Julien; Caputo, Sandrine M

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

作者更正:BRCA1 基因创始人外显子重复导致 T2T 参考基因组特异性区域断点,从而产生构成性融合转录本。

Schwartz, Mathias; Filser, Mathilde; Merchadou, Kevin; Lemaitre, Elisa; Abidallah, Khadija; Tenreiro, Henrique; Dubois D'enghien, Catherine; Rapinat, Audrey; Pierre-Noel, Elise; Suybeng, Voreak; Espenel, Marion; Baulande, Sylvain; Adams, Séverine; Remenieras, Audrey; Renaud, Crystal; Aucouturier, Camille; Delnatte, Capucine; Garrec, Céline; Renault, Victor; Golmard, Lisa; Fourme, Emmanuelle; Masliah-Planchon, Julien; Caputo, Sandrine M

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

早期发病的三阴性乳腺癌患者中,BRCA1 表观遗传突变的患病率很高

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

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

甲基化敏感高分辨率熔解技术是一种简单灵敏的检测MLH1基因启动子种系表观突变的方法。

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

Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement

男性乳腺癌:未发现嵌合型 BRCA1 启动子甲基化参与的证据

Schwartz, Mathias; Ibadioune, Sabrina; Vacher, Sophie; Villy, Marie-Charlotte; Trabelsi-Grati, Olfa; Le Gall, Jessica; Caputo, Sandrine M; Delhomelle, Hélène; Warcoin, Mathilde; Moncoutier, Virginie; Bourneix, Christine; Boutry-Kryza, Nadia; De Pauw, Antoine; Stern, Marc-Henri; Buecher, Bruno; Mouret-Fourme, Emmanuelle; Colas, Chrystelle; Stoppa-Lyonnet, Dominique; Masliah-Planchon, Julien; Golmard, Lisa; Bieche, Ivan

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

身高、体重指数和体重增加与BRCA1或BRCA2致病变异携带者乳腺癌风险的关联:BRCA1和BRCA2队列联盟

Kast, Karin; John, Esther M; Hopper, John L; Andrieu, Nadine; Noguès, Catherine; Mouret-Fourme, Emmanuelle; Lasset, Christine; Fricker, Jean-Pierre; Berthet, Pascaline; Mari, Véronique; Salle, Lucie; Schmidt, Marjanka K; Ausems, Margreet G E M; Garcia, Encarnacion B Gomez; van de Beek, Irma; Wevers, Marijke R; Evans, D Gareth; Tischkowitz, Marc; Lalloo, Fiona; Cook, Jackie; Izatt, Louise; Tripathi, Vishakha; Snape, Katie; Musgrave, Hannah; Sharif, Saba; Murray, Jennie; Colonna, Sarah V; Andrulis, Irene L; Daly, Mary B; Southey, Melissa C; de la Hoya, Miguel; Osorio, Ana; Foretova, Lenka; Berkova, Dita; Gerdes, Anne-Marie; Olah, Edith; Jakubowska, Anna; Singer, Christian F; Tan, Yen; Augustinsson, Annelie; Rantala, Johanna; Simard, Jacques; Schmutzler, Rita K; Milne, Roger L; Phillips, Kelly-Anne; Terry, Mary Beth; Goldgar, David; van Leeuwen, Flora E; Mooij, Thea M; Antoniou, Antonis C; Easton, Douglas F; Rookus, Matti A; Engel, Christoph

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

与BRCA1和BRCA2致病变异相关的癌症风险

Li, Shuai; Silvestri, Valentina; Leslie, Goska; Rebbeck, Timothy R; Neuhausen, Susan L; Hopper, John L; Nielsen, Henriette Roed; Lee, Andrew; Yang, Xin; McGuffog, Lesley; Parsons, Michael T; Andrulis, Irene L; Arnold, Norbert; Belotti, Muriel; Borg, Åke; Buecher, Bruno; Buys, Saundra S; Caputo, Sandrine M; Chung, Wendy K; Colas, Chrystelle; Colonna, Sarah V; Cook, Jackie; Daly, Mary B; de la Hoya, Miguel; de Pauw, Antoine; Delhomelle, Hélène; Eason, Jacqueline; Engel, Christoph; Evans, D Gareth; Faust, Ulrike; Fehm, Tanja N; Fostira, Florentia; Fountzilas, George; Frone, Megan; Garcia-Barberan, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Gehrig, Andrea; Glendon, Gord; Goldgar, David E; Golmard, Lisa; Greene, Mark H; Hahnen, Eric; Hamann, Ute; Hanson, Helen; Hassan, Tiara; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Janavicius, Ramunas; Jiao, Yue; John, Esther M; Karlan, Beth Y; Kim, Sung-Won; Konstantopoulou, Irene; Kwong, Ava; Laugé, Anthony; Lee, Jong Won; Lesueur, Fabienne; Mebirouk, Noura; Meindl, Alfons; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Ngeow Yuen Yie, Joanne; Niederacher, Dieter; Park, Sue K; Pedersen, Inge Sokilde; Ramser, Juliane; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad U; Reichl, Florian; Ritter, Julia; Rump, Andreas; Santamariña, Marta; Saule, Claire; Schmidt, Gunnar; Schmutzler, Rita K; Senter, Leigha; Shariff, Saba; Singer, Christian F; Southey, Melissa C; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen; Teo, Soo Hwang; Terry, Mary Beth; Thomassen, Mads; Tischkowitz, Marc; Toland, Amanda E; Torres, Diana; Vega, Ana; Wagner, Sebastian A; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H F; Yannoukakos, Drakoulis; Spurdle, Amanda B; Easton, Douglas F; Chenevix-Trench, Georgia; Ottini, Laura; Antoniou, Antonis C

Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants

乳腺癌患病率与发病率:对携带致病性 BRCA1/2 变异的女性进行临床和放射学监测的益处

Saule, Claire; Menu-Hespel, Solveig; Carton, Matthieu; Malhaire, Caroline; Cherel, Pascal; Reyal, Fabien; Le Mentec, Marine; Guillot, Eugénie; Donnadieu, Anne; Callet, Nasrine; Frank, Sophie; Coussy, Florence; Stoppa-Lyonnet, Dominique; Mouret-Fourme, Emmanuelle

Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence

改进 BOADICEA 癌症风险预测模型,纳入 RAD51C、RAD51D 和 BARD1 的最新数据,以更新肿瘤病理学和癌症发病率。

Lee, Andrew; Mavaddat, Nasim; Cunningham, Alex; Carver, Tim; Ficorella, Lorenzo; Archer, Stephanie; Walter, Fiona M; Tischkowitz, Marc; Roberts, Jonathan; Usher-Smith, Juliet; Simard, Jacques; Schmidt, Marjanka K; Devilee, Peter; Zadnik, Vesna; Jürgens, Hannes; Mouret-Fourme, Emmanuelle; De Pauw, Antoine; Rookus, Matti; Mooij, Thea M; Pharoah, Paul Pd; Easton, Douglas F; Antoniou, Antonis C

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