胆道癌的基因检测和遗传咨询:提高技术水平的操作建议

IF 3.8 3区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Expert Review of Gastroenterology & Hepatology Pub Date : 2024-04-08 DOI:10.1080/17474124.2024.2337000
Margherita Rimini, Silvia Presi, Giovanni Battista Pipitone, Annalisa Russo Raucci, Francesca Ratti, Angelo Della Corte, Federica Pedica, Giuseppe Vanella, Giovanni Tonon, Valentina Burgio, Francesco Vitiello, Federico Rossari, Elisabeth Amadeo, Maria Giulia Cangi, Lorenza Pecciarini, Paolo Giorgio Arcidiacono, Francesca Falcinelli, Stefano Cascinu, Francesco De Cobelli, Luca Aldrighetti, Maria Grazia Patricelli, Paola Carrera, Andrea Casadei-Gardini
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引用次数: 0

摘要

胆管癌似乎与遗传易感性有关,但胆管癌种系突变的发生率仍不清楚,种系病理变异的治疗作用也不明确。
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Germline testing and genetic counselling in biliary tract cancer: an operative proposal to improve the state of art
A genetic predisposition seems to be involved in biliary tract cancer, but the prevalence of germline mutations in BTC remains unclear, and the therapeutic role of the germline pathologic variants ...
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来源期刊
Expert Review of Gastroenterology & Hepatology
Expert Review of Gastroenterology & Hepatology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
6.80
自引率
2.60%
发文量
86
审稿时长
6-12 weeks
期刊介绍: The enormous health and economic burden of gastrointestinal disease worldwide warrants a sharp focus on the etiology, epidemiology, prevention, diagnosis, treatment and development of new therapies. By the end of the last century we had seen enormous advances, both in technologies to visualize disease and in curative therapies in areas such as gastric ulcer, with the advent first of the H2-antagonists and then the proton pump inhibitors - clear examples of how advances in medicine can massively benefit the patient. Nevertheless, specialists face ongoing challenges from a wide array of diseases of diverse etiology.
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