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

Correction: Cosegregation analysis following an excellent response to olaparib in a pancreatic cancer patient carrier of BRCA2:c.7892 T > C variant enables its reclassification from VUS to pathogenic

更正:在一名携带 BRCA2:c.7892 T > C 变异的胰腺癌患者中,对奥拉帕尼治疗反应良好后进行的共分离分析,使得该变异能够从意义未明的变异 (VUS) 重新分类为致病性变异 (pathic mutation)。

Strojnik, Ksenija; Blatnik, Ana; Krajc, Mateja; Novaković, Aleksander; Ignjatović, Marija; Ocvirk, Janja; Stegel, Vida; Škerl, Petra; Klančar, Gašper; Novaković, Srdjan; Šetrajčič Dragoš, Vita

Cosegregation analysis following an excellent response to olaparib in a pancreatic cancer patient carrier of BRCA2:c.7892 T > C variant enables its reclassification from VUS to pathogenic

在一名携带 BRCA2:c.7892 T > C 变异的胰腺癌患者中,奥拉帕尼治疗效果显著,对其进行共分离分析后,可将该变异从意义未明的变异 (VUS) 重新分类为致病性变异 (principal variant)。

Strojnik, Ksenija; Blatnik, Ana; Krajc, Mateja; Novaković, Aleksander; Ignjatović, Marija; Ocvirk, Janja; Stegel, Vida; Škerl, Petra; Klančar, Gašper; Novaković, Srdjan; Šetrajčič Dragoš, Vita

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

Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature

生殖系基因检测后遗传性癌症基因的次要发现——文献系统综述

Avsec, Eva; Blatnik, Ana; Krajc, Mateja

Slovenian women's breast cancer risk assessment in the screening program

斯洛文尼亚女性乳腺癌筛查计划中的风险评估

Cardona-Cordero, Nancy R; Ortiz, Ana P; Rosado-Estrada, Lenulisy; Torres-Rodríguez, Polaris N; Torres-Cintrón, Carlos R; Michael, Noreen; Méndez-Lázaro, Pablo; Suárez, Erick; Ortiz-Ortiz, Karen; Soto-Salgado, Marievelisse; Chow, K; Oldridge-Turner, K; Mitrou, P; Croker, H; Riboli, E; Braggion, A; van der Linden, BWA; Tancredi, S; Cullati, S; Chiolero, A; Jarm, K; Zadnik, V; Krajc, M

Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing

对下一代测序时代接受癌症基因检测的患者知情同意书的分析

Kerševan, Tina; Kogovšek, Tina; Blatnik, Ana; Krajc, Mateja

Cancer Risk Factors Awareness in Slovenian Adolescents

斯洛文尼亚青少年对癌症风险因素的认知

Jarm, Katja; Šajn, Eva; Hadžić, Enej; Jurak, Gregor; Krajc, Mateja; Ivanuš, Urška; But-Hadžić, Jasna

Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives

公众态度对临床实践中关于基因风险披露的做法提出了挑战,倾向于由医疗机构直接向亲属告知相关信息。

Rosén, Anna; Krajc, Mateja; Ehrencrona, Hans; Bajalica-Lagercrantz, Svetlana

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

在斯洛文尼亚,PALB2基因中两个反复出现的致病/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

Genetic counselling legislation and practice in cancer in EU Member States

欧盟成员国癌症遗传咨询立法和实践

McCrary, J Matt; Van Valckenborgh, Els; Poirel, Hélène A; de Putter, Robin; van Rooij, Jeroen; Horgan, Denis; Dierks, Marie-Luise; Antonova, Olga; Brunet, Joan; Chirita-Emandi, Adela; Colas, Chrystelle; Dalmas, Miriam; Ehrencrona, Hans; Grima, Claire; Janavičius, Ramūnas; Klink, Barbara; Koczok, Katalin; Krajc, Mateja; Lace, Baiba; Leitsalu, Liis; Mistrik, Martin; Paneque, Milena; Primorac, Dragan; Roetzer, Katharina M; Ronez, Joelle; Slámová, Lucie; Spanou, Elena; Stamatopoulos, Kostas; Stoklosa, Tomasz; Strang-Karlsson, Sonja; Szakszon, Katalin; Szczałuba, Krzysztof; Turner, Jacqueline; van Dooren, Marieke F; van Zelst-Stams, Wendy A G; Vassallo, Loredana-Maria; Wadt, Karin A W; Žigman, Tamara; Ripperger, Tim; Genuardi, Maurizio; Van den Bulcke, Marc; Bergmann, Anke Katharina