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

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

基于贝叶斯方法的定量基因特异性变异分类:更新的专家组建议改进了李-弗劳梅尼综合征TP53种系变异的分类。

Fortuno, Cristina; Frone, Megan N; Mester, Jessica; de la Hoya, Miguel; Mai, Phuong L; Pesaran, Tina; Achatz, Maria Isabel; Bassett, Rebecca; Bustamante, Carolina; Crowley, Stephanie; de Andrade, Kelvin Cesar; Evans, D Gareth; Feng, Bingjian; Fuqua, Laura; Harrell, Maria Isabel; Hatton, Jessica N; Huether, Robert; Kesserwan, Chimene; Lee, Kristy; MacFarland, Suzanne P; Maciaszek, Jamie L; Maxwell, Kara; McGoldrick, Kelly; Murphy, Maureen; Nehoray, Bita; Penkert, Judith; Pinto, Emilia Modolo; Plon, Sharon E; Schwartz-Levine, Alison; Thompson, Ashley S; Wang, Wenyi; Zambetti, Gerard P; Zelley, Kristin; James, Paul A; Savage, Sharon A; Kratz, Christian P; Spurdle, Amanda B

Data-Driven Mapping of the Cesium Cadmium Bromide Phase Space Utilizing a Soft-Chemistry Approach

利用软化学方法对溴化铯镉相空间进行数据驱动映射

Crans, Kyle D; Sun, Zhaohong; Nehoray, Ariel A; Brutchey, Richard L

Uptake of Risk-Reducing Surgeries in an International Real-World Cohort of Hispanic Women

一项针对国际真实世界西班牙裔女性队列的研究显示,风险降低手术的接受情况

Chavarri-Guerra, Yanin; Ferrigno-Guajardo, Ana; Villarreal-Garza, Cynthia; Martinez-Cannon, Bertha Alejandra; Abugattas-Saba, Julio; Fontaine, Annette C; Horcasitas, Darling J; Mora-Alferez, Pamela; Unzeitig, Gary W; Brown, Sandra; Mohar-Betancourt, Alejandro; Nehoray, Bita; Del Toro-Valero, Azucena; Daneri-Navarro, Adrian; Ganschow, Pamela; Komenaka, Ian; Rodriguez, Yenni; Gutierrez Seymour, Gubidxa; Valdez, Leonora; Blazer, Kathleen R; Ellis, Shellie; Weitzel, Jeffrey N

Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status

通过对构成性TP53状态的多组织分析揭示克隆性造血和嵌合现象

Castillo, Danielle; Yuan, Tze-An; Nehoray, Bita; Cervantes, Aleck; Tsang, Kevin K; Yang, Kai; Sand, Sharon R; Mokhnatkin, Janet; Herzog, Josef; Slavin, Thomas P; Hyman, Sophie; Schwartz, Alison; Ebert, Benjamin L; Amos, Christopher I; Garber, Judy E; Weitzel, Jeffrey N

Cross-sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment

一项横断面临床癌症基因组学实践社区调查分析了医务人员对于使用已故家庭成员组织指导在世家庭成员遗传癌症风险评估的态度和信念。

Nehoray, Bita; Slavin, Thomas P; Sun, Can-Lan; Hurley, Karen; King, Elisabeth; Tsang, Kevin K; Cervantes, Aleck; Mokhnatkin, Janet V; Sand, Sharon; Mejia, Rosa; Reb, Anne; Samimi, Goli; Gray, Stacy; Blazer, Kathleen R; Weitzel, Jeffrey N

Multigene assessment of genetic risk for women for two or more breast cancers

对女性罹患两种或多种乳腺癌进行多基因遗传风险评估

Weitzel, Jeffrey N; Kidd, John; Bernhisel, Ryan; Shehayeb, Susan; Frankel, Paul; Blazer, Kathleen R; Turco, Diana; Nehoray, Bita; McGreevy, Kim; Svirsky, Kira; Brown, Krystal; Gardiner, Anna; Daly, Mary; Hughes, Elisha; Cummings, Shelly; Saam, Jennifer; Slavin, Thomas P

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

一项针对 22,588 名 BRCA1 和 BRCA2 突变携带者的研究,探讨身高和体重指数作为卵巢癌风险调节因素的孟德尔随机化研究

Qian, Frank; Rookus, Matti A; Leslie, Goska; Risch, Harvey A; Greene, Mark H; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arnold, Norbert; Arun, Banu K; Ausems, Margreet G E M; Azzollini, Jacopo; Barrowdale, Daniel; Barwell, Julian; Benitez, Javier; Białkowska, Katarzyna; Bonadona, Valérie; Borde, Julika; Borg, Ake; Bradbury, Angela R; Brunet, Joan; Buys, Saundra S; Caldés, Trinidad; Caligo, Maria A; Campbell, Ian; Carter, Jonathan; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Collée, J Margriet; Collonge-Rame, Marie-Agnès; Couch, Fergus J; Daly, Mary B; Delnatte, Capucine; Diez, Orland; Domchek, Susan M; Dorfling, Cecilia M; Eason, Jacqueline; Easton, Douglas F; Eeles, Ros; Engel, Christoph; Evans, D Gareth; Faivre, Laurence; Feliubadaló, Lidia; Foretova, Lenka; Friedman, Eitan; Frost, Debra; Ganz, Patricia A; Garber, Judy; Garcia-Barberan, Vanesa; Gehrig, Andrea; Glendon, Gord; Godwin, Andrew K; Gómez Garcia, Encarna B; Hamann, Ute; Hauke, Jan; Hopper, John L; Hulick, Peter J; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; Janavicius, Ramunas; John, Esther M; Karlan, Beth Y; Kets, Carolien M; Laitman, Yael; Lázaro, Conxi; Leroux, Dominique; Lester, Jenny; Lesueur, Fabienne; Loud, Jennifer T; Lubiński, Jan; Łukomska, Alicja; McGuffog, Lesley; Mebirouk, Noura; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Miller, Austin; Montagna, Marco; Mooij, Thea M; Mouret-Fourme, Emmanuelle; Nathanson, Katherine L; Nehoray, Bita; Neuhausen, Susan L; Nevanlinna, Heli; Nielsen, Finn C; Offit, Kenneth; Olah, Edith; Ong, Kai-Ren; Oosterwijk, Jan C; Ottini, Laura; Parsons, Michael T; Peterlongo, Paolo; Pfeiler, Georg; Pradhan, Nisha; Radice, Paolo; Ramus, Susan J; Rantala, Johanna; Rennert, Gad; Robson, Mark; Rodriguez, Gustavo C; Salani, Ritu; Scheuner, Maren T; Schmutzler, Rita K; Shah, Payal D; Side, Lucy E; Simard, Jacques; Singer, Christian F; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Tan, Yen Yen; Teixeira, Manuel R; Terry, Mary Beth; Thomassen, Mads; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tung, Nadine; van Asperen, Christi J; van Engelen, Klaartje; van Rensburg, Elizabeth J; Venat-Bouvet, Laurence; Vierstraete, Jeroen; Wagner, Gabriel; Walker, Lisa; Weitzel, Jeffrey N; Yannoukakos, Drakoulis; Antoniou, Antonis C; Goldgar, David E; Olopade, Olufunmilayo I; Chenevix-Trench, Georgia; Rebbeck, Timothy R; Huo, Dezheng

Experience Gained from the Development and Execution of a Multidisciplinary Multi-syndrome Hereditary Colon Cancer Family Conference

从多学科多综合征遗传性结肠癌家族会议的筹备和执行中获得的经验

Solomon, Ilana; Rybak, Christina; Van Tongeren, Lily; Kuzmich, Lili; Blazer, Kathleen; Nehoray, Bita; Niell-Swiller, Mariana; Bray, Shawnie; Bray, Travis H; Hurley, Karen; Weitzel, Jeffrey N; Slavin, Thomas P

The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients

10000名患者中不同年龄段乳腺癌易感基因变异的负担

Chavarri-Guerra, Yanin; Hendricks, Carolyn B; Brown, Sandra; Marcum, Catherine; Hander, Mary; Segota, Zdenka E; Hake, Chris; Sand, Sharon; Slavin, Thomas P; Hurria, Arti; Soto-Perez-de-Celis, Enrique; Nehoray, Bita; Blankstein, Kenneth B; Blazer, Kathleen R; Weitzel, Jeffrey N

Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry

癌症遗传变异的前瞻性研究:按祖先划分的重新分类率的变化

Slavin, Thomas P; Van Tongeren, Lily R; Behrendt, Carolyn E; Solomon, Ilana; Rybak, Christina; Nehoray, Bita; Kuzmich, Lili; Niell-Swiller, Mariana; Blazer, Kathleen R; Tao, Shu; Yang, Kai; Culver, Julie O; Sand, Sharon; Castillo, Danielle; Herzog, Josef; Gray, Stacy W; Weitzel, Jeffrey N