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

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

BRCA1 和 BRCA2 致病性变异会增加四种不太常见的癌症的风险

Sasagawa, H; Endo, M; Iwasaki, Y; Usui, Y; Koyanagi, Y N; Innella, G; Hadler, J; Parsons, M T; Numakura, K; Kamatani, Y; Murakami, Y; Matsuo, K; Matsuda, K; Spurdle, A B; Habuchi, T; Momozawa, Y

Development of a risk score based on clinical-pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients

基于临床病理特征开发风险评分,以预测卵巢癌患者中是否存在生殖系BRCA1/2致病性变异

Innella, G; Erini, G; De Leo, A; Godino, L; Caramanna, L; Ferrari, S; Miccoli, S; Perrone, A M; Zamagni, C; De Iaco, P; Turchetti, D; Rucci, P

Response to: Re: 'Development of a risk score based on clinical-pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients'

回复:关于“基于临床病理特征开发风险评分以预测卵巢癌患者中是否存在生殖系BRCA1/2致病性变异”的讨论

Innella, G; Erini, G; De Leo, A; Godino, L; Caramanna, L; Ferrari, S; Miccoli, S; Perrone, A M; Zamagni, C; De Iaco, P; Turchetti, D; Rucci, P

Machine learning prediction of germline BRCA1/2 pathogenic variants in patients with ovarian cancer

利用机器学习预测卵巢癌患者的生殖系BRCA1/2致病变异

Innella, Giovanni; Erini, Giulia; De Leo, Antonio; Godino, Lea; Caramanna, Luca; Ferrari, Simona; Miccoli, Sara; Perrone, Anna Myriam; Zamagni, Claudio; De Iaco, Pierandrea; Turchetti, Daniela; Rucci, Paola

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice

转录组分析在临床遗传学日常实践中的有效性和影响

Innella, Giovanni; Coccia, Emanuele; Cristalli, Carlotta Pia; Zacchi, Eliana; Calabrese, Sara; Bacchi, Isabelle; Palombo, Flavia; Taormina, Sara; Evangelisti, Cecilia; Lanzoni, Giulia; Carelli, Valerio; Diquigiovanni, Chiara; Ferrari, Simona; Panza, Emanuele; Rossi, Cesare; Vaisfeld, Alessandro; Bonora, Elena; Turchetti, Daniela

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study

意大利艾米利亚-罗马涅大区临床遗传服务:现状与未解决的问题:一项混合方法研究

Godino, Lea; Ambrosini, Enrico; Barili, Valeria; Graziano, Claudio; Garavelli, Livia; Calabrese, Olga; Neri, Marcella; Sangiorgi, Luca; Bertonazzi, Benedetta; Innella, Giovanni; Turchetti, Daniela; Percesepe, Antonio

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study

PTEN错构瘤肿瘤综合征(PHTS)患者的癌症预后和治疗结果——一项欧洲队列研究

Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; de Putter, Robin; Brems, Hilde; Van Daele, Sien H; Anastasiadou, Violetta C; Foretová, Lenka; Benusiglio, Patrick R; Gerasimenko, Anna; Colas, Chrystelle; Villy, Marie-Charlotte; Houdayer, Claude; Branchaud, Maud; Hüneburg, Robert; Aretz, Stefan; Jahn, Arne; Steinke-Lange, Verena; Innella, Giovanni; Turchetti, Daniela; Barili, Valeria; Genuardi, Maurizio; Panfili, Arianna; Baldassarri, Margherita; Irmejs, Arvīds; de Jong, Mirjam M; Links, Thera P; Leter, Edward M; Bosch, Daniëlle G M; Donze, Stephany H; van der Post, Rachel S; Mensenkamp, Arjen R; Westdorp, Harm; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Jørgensen, Kjersti; Mæhle, Lovise; Briskemyr, Siri; Garcia, Juliette Dupont; Blatnik, Ana; Balmaña, Judith; Torres, Maite; Brunet, Joan; Lleuger-Pujol, Roser; Tham, Emma; Tischkowitz, Marc; Evans, D Gareth; Hyder, Zerin; Hoogerbrugge, Nicoline; Vos, Janet R

Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum

TP53致病变异相关的癌症风险:基于扩展家系的最大似然分析,用于诊断超出李-弗劳梅尼综合征谱系的首发癌症

Fortuno, Cristina; Feng, Bing-Jian; Carroll, Courtney; Innella, Giovanni; Kohlmann, Wendy; Lázaro, Conxi; Brunet, Joan; Feliubadaló, Lidia; Iglesias, Silvia; Menéndez, Mireia; Teulé, Alex; Ballinger, Mandy L; Thomas, David M; Campbell, Ainsley; Field, Mike; Harris, Marion; Kirk, Judy; Pachter, Nicholas; Poplawski, Nicola; Susman, Rachel; Tucker, Kathy; Wallis, Mathew; Williams, Rachel; Cops, Elisa; Goldgar, David; James, Paul A; Spurdle, Amanda B

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

澳大利亚家族性癌症中心国家级审查中发现的乳腺癌风险变异体未被充分认识的可操作性

Fortuno, Cristina; Cops, Elisa J; Davidson, Aimee L; Hadler, Johanna; Innella, Giovanni; McKenzie, Maddison E; Parsons, Michael; Campbell, Ainsley M; Dubowsky, Andrew; Fargas, Verna; Field, Michael J; Mar Fan, Helen G; Nichols, Cassandra B; Poplawski, Nicola K; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; McPhillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A; Spurdle, Amanda B

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

意大利创始 BRCA1 变异 p.His1673del 携带者的异常癌症风险特征:对分类和临床管理的影响

Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing-Jian Feng, Courtney Carroll, Michael T Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Ele