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

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

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模荟萃分析和精准功能分析确定了FANCM区域中PTV赋予ER阴性和三阴性乳腺癌不同风险的基因表达谱。

Billaud, Amandine; Figlioli, Gisella; Mooser, Clémence; Casamassima, Irene; Azzoni, Violette; Srivatsa, Jahnavi; Colombo, Mara; Caleca, Laura; Ahearn, Thomas U; Andrulis, Irene L; Antoniou, Antonis C; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Czene, Kamila; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Gabrielson, Marike; Gago-Dominguez, Manuela; González-Neira, Anna; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Kristensen, Vessela N; Lubiński, Jan; Lush, Michael; Manoukian, Siranoush; Mavroudis, Dimitrios; Milne, Roger L; Mulligan, Anna Marie; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Pita, Guillermo; Rashid, Muhammad U; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Southey, Melissa C; Spurdle, Amanda B; Tomlinson, Ian; Truong, Thérèse; Wang, Qin; Wendt, Camilla; Auer, Paul L; Boddicker, Nicholas J; Bodelon, Clara; Burnside, Elizabeth S; Chen, Fei; Couch, Fergus J; Domchek, Susan M; Eliassen, Heather A; Haiman, Christopher; Hodge, James M; Hu, Chunling; Huang, Hongyan; Lindstrom, Sara; Martinez, Maria Elena; Nathanson, Katherine L; Neuhausen, Susan L; O'Brien, Katie M; Olson, Janet E; Palmer, Julie R; Patel, Alpa V; Ruddy, Kathryn J; Sandler, Dale P; Teras, Lauren R; Weinberg, Clarice R; Weitzel, Jeffrey N; Winham, Stacey J; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary; Janatova, Marketa; Kleibl, Zdenek; Kleiblova, Petra; Soukupova, Jana; Zhao, Qihong; Devereux, Lisa; James, Paul A; Campbell, Ian G; Nguyen-Dumont, Tu; Dowty, James G; Andrieu, Nadine; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Hoya, Miguel de la; Radice, Paolo; Sørensen, Claus Storgaard; Peterlongo, Paolo

Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia

针对23种癌症的病例对照研究及CHEK2功能分析:东亚地区风险评估及临床建议

Takehara, Yuri; Usui, Yoshiaki; Stolařová, Lenka; Kleiblova, Petra; Iwasaki, Yusuke; Johnson, Todd A; Hirata, Makoto; Kamatani, Yoichiro; Murakami, Yoshinori; Endo, Mikiko; Shiraishi, Kouya; Kohno, Takashi; Sugano, Kokichi; Matsuda, Koichi; Yoshida, Teruhiko; Spurdle, Amanda B; Nakagawa, Hidewaki; Macurek, Libor; Kleibl, Zdenek; Momozawa, Yukihide

RAD18 directs DNA double-strand break repair by homologous recombination to post-replicative chromatin

RAD18 通过同源重组指导 DNA 双链断裂修复至复制后染色质

Matous Palek, Natalie Palkova; consortium CZECANCA; Petra Kleiblova, Zdenek Kleibl, Libor Macurek

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

CHEK2基因深内含子复发性变异c.1009-118_1009-87delinsC影响前体mRNA剪接,并与遗传性乳腺癌易感性相关。

Zemankova, Petra; Cerna, Marta; Horackova, Klara; Ernst, Corinna; Soukupova, Jana; Borecka, Marianna; Blümcke, Britta; Cerna, Leona; Cerna, Monika; Curtisova, Vaclava; Dolezalova, Tatana; Duskova, Petra; Dvorakova, Lenka; Foretova, Lenka; Havranek, Ondrej; Hauke, Jan; Hahnen, Eric; Hodulova, Miloslava; Hovhannisyan, Milena; Hruskova, Lucie; Janatova, Marketa; Janikova, Maria; Jelinkova, Sandra; Just, Pavel; Kosarova, Marcela; Koudova, Monika; Krutilkova, Vera; Machackova, Eva; Matejkova, Katerina; Michalovska, Renata; Misove, Adela; Nehasil, Petr; Nemcova, Barbora; Novotny, Jan; Panczak, Ales; Pesek, Pavel; Scheinost, Ondrej; Springer, Drahomira; Stastna, Barbora; Stranecky, Viktor; Subrt, Ivan; Tavandzis, Spiros; Tureckova, Eva; Vesela, Kamila; Vlckova, Zdenka; Vocka, Michal; Wappenschmidt, Barbara; Zima, Tomas; Kleibl, Zdenek; Kleiblova, Petra

PPM1D activity promotes cellular transformation by preventing senescence and cell death

PPM1D 活性通过防止衰老和细胞死亡来促进细胞转化

Miroslav Stoyanov, Andra S Martinikova, Katerina Matejkova, Klara Horackova, Petra Zemankova, Kamila Burdova, Zuzana Zemanova, Petra Kleiblova, Zdenek Kleibl, Libor Macurek

A comprehensive analysis of germline predisposition to early-onset ovarian cancer

对早发性卵巢癌的种系易感性进行全面分析

Horackova, Klara; Zemankova, Petra; Nehasil, Petr; Vocka, Michal; Hovhannisyan, Milena; Matejkova, Katerina; Janatova, Marketa; Cerna, Marta; Kleiblova, Petra; Jelinkova, Sandra; Stastna, Barbora; Just, Pavel; Dolezalova, Tatana; Nemcova, Barbora; Urbanova, Marketa; Koudova, Monika; Hazova, Jana; Machackova, Eva; Foretova, Lenka; Stranecky, Viktor; Zikan, Michal; Kleibl, Zdenek; Soukupova, Jana

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

ENIGMA CHEK2gether 项目:一项综合研究确定了与乳腺癌风险增加相关的功能受损 CHEK2 种系错义变异

Lenka Stolarova #, Petra Kleiblova #, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Banu K Arun, Paul Auer, Mollie Barnard, Birgitte Bertelsen; Biobank Japan; Marinus J Blok, Nicholas Boddicker, Joan Brunet, Elizabe

Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex

人类MRE11、RAD50和NBN基因(编码MRN复合物)的种系和体细胞改变的重要性

Otahalova, Barbora; Volkova, Zuzana; Soukupova, Jana; Kleiblova, Petra; Janatova, Marketa; Vocka, Michal; Macurek, Libor; Kleibl, Zdenek

Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?

30岁以下人群罹患早发性卵巢癌:我们对它的遗传易感性了解多少?

Horackova, Klara; Janatova, Marketa; Kleiblova, Petra; Kleibl, Zdenek; Soukupova, Jana