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

The breast cancer risk assessment pathway in England: a systems analysis of current challenges and ways to improve

英格兰乳腺癌风险评估路径:当前挑战及改进途径的系统分析

Valasaki, Maria; Taylor, Lily C; Woof, Victoria G; Howell, Sacha J; Tischkowitz, Marc; Antoniou, Antonis C; Archer, Stephanie; French, David P; Usher-Smith, Juliet A

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

从连续体的角度考虑遗传性癌症风险:国际和多学科视角:美国医学遗传学和基因组学学会 (ACMG) 的考虑要点声明

Pal, Tuya; Christopher, Joseph; Astiazaran-Symonds, Esteban; Foulkes, William D; James, Paul; Klugman, Susan; Kurian, Allison; Mak, Julie; Monteiro, Alvaro; Robson, Mark; Tischkowitz, Marc; Stewart, Douglas R; Hanson, Helen

Modeling Individual-Level Uncertainty From Missing Data in Multifactorial Breast Cancer Risk Prediction

利用缺失数据对多因素乳腺癌风险预测中的个体层面不确定性进行建模

White, Bethan L; Ficorella, Lorenzo; Yang, Xin; Czene, Kamila; Eriksson, Mikael; Hall, Per; Archer, Stephanie; Tischkowitz, Marc; Usher-Smith, Juliet A; Easton, Douglas F; Antoniou, Antonis C

Genomic ascertainment of PALB2 -related cancer predisposition

PALB2相关癌症易感性的基因组鉴定

Stewart, Douglas R; Kim, Jung; Haley, Jeremy S; Li, Jiang; Sargen, Michael R; Hong, Hyokyoung; Tischkowitz, Marc; McReynolds, Lisa J; Carey, David J

Implementing mainstream germline genetic testing in breast cancer across Europe

在欧洲范围内推广乳腺癌主流生殖系基因检测

Pérez-Ballestero, Eduard; Shire, Sagal Ahmed; Krajc, Mateja; Irmejs, Arvīds; Foretová, Lenka; Frank, Sophie; Kahre, Tiina; van Overeem Hansen, Thomas; Koppert, Linetta; Burgemeister, Anna Lena; Tischkowitz, Marc; Balmaña, Judith; Bajalica-Lagercrantz, Svetlana

Second Primary Cancer Risks After Breast Cancer in BRCA1 and BRCA2 Pathogenic Variant Carriers

BRCA1和BRCA2致病变异携带者乳腺癌后发生第二原发性癌症的风险

Allen, Isaac; Hassan, Hend; Walburga, Yvonne; Huntley, Catherine; Loong, Lucy; Rahman, Tameera; Allen, Sophie; Garrett, Alice; Torr, Bethany; Bacon, Andrew; Knott, Craig; Jose, Sophie; Vernon, Sally; Lüchtenborg, Margreet; Pethick, Joanna; Santaniello, Francesco; Goel, Shilpi; Wang, Ying-Wen; Lavelle, Katrina; McRonald, Fiona; Eccles, Diana; Morris, Eva; Hardy, Steven; Turnbull, Clare; Tischkowitz, Marc; Pharoah, Paul; Antoniou, Antonis C

Neoadjuvant PARP inhibitor scheduling in BRCA1 and BRCA2 related breast cancer: PARTNER, a randomized phase II/III trial.

BRCA1 和 BRCA2 相关乳腺癌的新辅助 PARP 抑制剂治疗方案:PARTNER,一项随机 II/III 期试验

Abraham Jean E, O'Connor Lenka Oplustil, Grybowicz Louise, Alba Karen Pinilla, Dayimu Alimu, Demiris Nikolaos, Harvey Caron, Drewett Lynsey M, Lucey Rebecca, Fulton Alexander, Roberts Anne N, Worley Joanna R, Chhabra Ms Anita, Qian Wendi, Brown Jessica, Hardy Richard, Vallier Anne-Laure, Chan Steve, Cidon Maria Esther Una, Sherwin Elizabeth, Chakrabarti Amitabha, Sadler Claire, Barnes Jen, Persic Mojca, Smith Sarah, Raj Sanjay, Borley Annabel, Braybrooke Jeremy P, Staples Emma, Scott Lucy C, Palmer Cheryl A, Moody Margaret, Churn Mark J, Pilger Domenic, Zagnoli-Vieira Guido, Wijnhoven Paul W G, Mukesh Mukesh B, Roylance Rebecca R, Schouten Philip C, Levitt Nicola C, McAdam Karen, Armstrong Anne C, Copson Ellen R, McMurtry Emma, Galbraith Susan, Tischkowitz Marc, Provenzano Elena, O'Connor Mark J, Earl Helena M

Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group

PTEN错构瘤肿瘤综合征的癌症和过度生长表现:国际PHTS共识指南工作组的管理建议

Dhawan, Andrew; Baitamouni, Sarah; Liu, Darren; Yehia, Lamis; Anthony, Kristin; McCarther, Alicia; Tischkowitz, Marc; MacFarland, Suzanne P; Ngeow, Joanne; Hoogerbrugge, Nicoline; Eng, Charis

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异注释指南中关于种系PALB2序列变异分析的规范

Richardson, Marcy E; Bishop, Megan F H; Holdren, Megan A; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Brannan, Terra; Young, Colin C; Zec, Lauren; Hiraki, Susan; Turnbull, Clare; Tischkowitz, Marc; Bernstein, Kara A; Masson, Jean-Yves; McNulty, Shannon M; Pesaran, Tina; Monteiro, Alvaro N; Walker, Logan C; Foulkes, William D; Couch, Fergus J