BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.10.007
Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B
肿瘤
PALB2
肿瘤免疫
BRCA2
乳腺癌
代谢
BRCA1
贫血