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

Long-Term Outcomes of Patients With BRCA+ or PALB2+ Pancreatic Cancer Treated With Maintenance Rucaparib: A Secondary Analysis of a Nonrandomized Clinical Trial

接受 Rucaparib 维持治疗的 BRCA+ 或 PALB2+ 胰腺癌患者的长期疗效:一项非随机临床试验的二次分析

Reiss, Kim A; Xia, Mingyi; Akamandisa, Mwangala; D'Andrea, Kurt; Wubbenhorst, Brad; Lord, Christopher J; Pettitt, Stephen J; Tutt, Andrew N J; Brown, Timothy J; O'Hara, Mark H; Schneider, Charles; Teitelbaum, Ursina; Hannan, Zain; Hood, Ryan; Tondon, Rashmi; Vonderheide, Robert H; Domchek, Susan M; Nathanson, Katherine L

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

位点饱和功能筛选可识别与乳腺癌风险增加相关的 PALB2 错义变异。

Boonen Rick A C M, Knaup Sabine C, Menafra Roberta, Braspenning Merel E, Rother Magdalena B, Kleiblova Petra, Janatova Marketa, Ruano Dina, Hu Chunling, Huang Huaizhi, Joseph Vijai, Conry Michael, Heijl Stephan, Vroling Bas, Goeman Jelle J, Varga Matthew, Richardson Marcy E, Kloet Susan L, Couch Fergus J, Vreeswijk Maaike P G, van Attikum Haico

BRCA1/2, PALB2 mutations and first-line CDK4/6 inhibitor efficacy in HR+ metastatic breast cancer

BRCA1/2、PALB2 突变与 HR+ 转移性乳腺癌一线 CDK4/6 抑制剂疗效

Guinel, Timothé; Lusque, Amélie; Mailliez, Audrey; Massard, Vincent; Jacot, William; Guiu, Severine; de la Motte Rouge, Thibault; Brain, Etienne; Desmoulins, Isabelle; Arnedos, Monica; Bailleux, Caroline; Goncalves, Anthony; Levy, Christelle; Bachelot, Thomas; Bosquet, Lise; Delaloge, Suzette; Frénel, Jean-Sébastien

Correction: Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia

更正:在斯洛文尼亚,PALB2基因中两个复发性致病/可能致病变异占PALB2阳性家族的一半。

Mesarič, Vita Andreja; Blatnik, Ana; Starič, Kristina Drusany; Strojnik, Ksenija; Stegel, Vida; Hotujec, Simona; Dragoš, Vita Šetrajčič; Škerl, Petra; Novaković, Srdjan; Krajc, Mateja

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield

通过NGS对遗传性癌症患者拷贝数变异进行表征,结果显示PALB2对诊断率有显著贡献

Bonamici, Lia; Artuso, Lucia; Marino, Marco; Toss, Angela; Sidoti, Diletta; Barbieri, Elena; Venturelli, Marta; Marchi, Isabella; Pescucci, Chiara; Manfredini, Rossella; Papi, Laura; Dominici, Massimo; Cortesi, Laura; Tenedini, Elena; Tagliafico, Enrico

A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification

BRCA1、BRCA2 和 PALB2 变异分类中共分离分析的全面且易于使用的模型

Moghadasi, Setareh; Monajemi, Ramin; Braspenning, Merel E; Vreeswijk, Maaike P G; Rodríguez-Girondo, Mar

High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort

阿根廷遗传性乳腺癌和卵巢癌队列中非BRCA致病变异和复发性PALB2变异的高患病率

Martin, Claudia Alejandra; Bono, Catalina; Mandrile, Juliana; Kunst, Christine Susana Mercedes; Borello, Adriana Elizabeth; Ávila, Rodolfo; Salazar, Florencia Celeste; Miretti, Virginia; Pabletich, Florencia; Andreoli, Verónica; Ceschin, Danilo Guillermo

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

Breast, Colorectal, and Pancreatic Cancer Mortality With Pathogenic Variants in ATM, CHEK2, or PALB2

ATM、CHEK2 或 PALB2 致病变异与乳腺癌、结直肠癌和胰腺癌死亡率相关

Veenstra, Christine M; Abrahamse, Paul; Hamilton, Ann S; Ward, Kevin C; Gomez, Scarlett L; Liu, Lihua; Katz, Steven J; Hofer, Timothy P; Kurian, Allison W

PALB2 and 53BP1 govern post-resection homologous recombination DNA repair

PALB2 和 53BP1 调控切除后同源重组 DNA 修复

Yifan Wang ,Yan Coulombe ,Wei-Ting Yueh ,Gregory D Conway ,Larissa Milano ,David J Glass ,Mélissa Thomas ,Amélie Rodrigue ,Joseph Nacson ,Dongbo Lu ,Andrea J Bernhardy ,Robert G Betsch ,Alyssa I Russo ,Gamal A Elfar ,Kathy Q Cai ,Joseph R Testa ,Mark Andrake ,Roland Dunbrack ,Gaorav P Gupta ,Bing Xia ,Eloise Dray ,Jean-Yves Masson ,Neil Johnson