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

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模荟萃分析和精准功能分析确定了FANCM区域中PTV赋予ER阴性和三阴性乳腺癌不同风险的基因表达谱。

Billaud, Amandine; Figlioli, Gisella; Mooser, Clémence; Casamassima, Irene; Azzoni, Violette; Srivatsa, Jahnavi; Colombo, Mara; Caleca, Laura; Ahearn, Thomas U; Andrulis, Irene L; Antoniou, Antonis C; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Czene, Kamila; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Gabrielson, Marike; Gago-Dominguez, Manuela; González-Neira, Anna; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Kristensen, Vessela N; Lubiński, Jan; Lush, Michael; Manoukian, Siranoush; Mavroudis, Dimitrios; Milne, Roger L; Mulligan, Anna Marie; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Pita, Guillermo; Rashid, Muhammad U; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Southey, Melissa C; Spurdle, Amanda B; Tomlinson, Ian; Truong, Thérèse; Wang, Qin; Wendt, Camilla; Auer, Paul L; Boddicker, Nicholas J; Bodelon, Clara; Burnside, Elizabeth S; Chen, Fei; Couch, Fergus J; Domchek, Susan M; Eliassen, Heather A; Haiman, Christopher; Hodge, James M; Hu, Chunling; Huang, Hongyan; Lindstrom, Sara; Martinez, Maria Elena; Nathanson, Katherine L; Neuhausen, Susan L; O'Brien, Katie M; Olson, Janet E; Palmer, Julie R; Patel, Alpa V; Ruddy, Kathryn J; Sandler, Dale P; Teras, Lauren R; Weinberg, Clarice R; Weitzel, Jeffrey N; Winham, Stacey J; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary; Janatova, Marketa; Kleibl, Zdenek; Kleiblova, Petra; Soukupova, Jana; Zhao, Qihong; Devereux, Lisa; James, Paul A; Campbell, Ian G; Nguyen-Dumont, Tu; Dowty, James G; Andrieu, Nadine; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Hoya, Miguel de la; Radice, Paolo; Sørensen, Claus Storgaard; Peterlongo, Paolo

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation

乳腺癌易感基因中+2T变异产生功能性非经典供体剪接位点:对临床解读的影响

Llinares-Burguet, Inés; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; García-Álvarez, Alicia; Valenzuela-Palomo, Alberto; Pérez-Segura, Pedro; de la Hoya, Miguel; Velasco-Sampedro, Eladio A

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants

47种ATM剪接位点变体的实验性错误剪接评估和ACMG/AMP指导分类

Llinares-Burguet, Inés; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; Esteban-Sanchez, Ada; Romano-Medina, Daniel; Ramadane-Morchadi, Lobna; García-Álvarez, Alicia; Pérez-Segura, Pedro; Easton, Doug F; Devilee, Peter; Vreeswijk, Maaike P G; de la Hoya, Miguel; Velasco-Sampedro, Eladio A

Catalytic Triad-Inspired Nanozyme Catalysts for Ester Hydrolysis in Organic Solvent Mixtures

受催化三元组启发的纳米酶催化剂用于有机溶剂混合物中的酯水解

Priya, M; Muthukumaran, B; Ihara, Hoya; Huang-Zhu, Carlos A; Yan, Tianwei; Edgar, Matthew D; Krishna, Siddarth H; Van Lehn, Reid C; Dumesic, James A; Huber, George W

Functional evaluation and clinical classification of BRCA2 variants

BRCA2变异体的功能评估和临床分类

Huaizhi Huang # ,Chunling Hu #,Jie Na,Steven N Hart,Rohan David Gnanaolivu,Mohamed Abozaid,Tara Rao,Yohannes A Tecleab  ; CARRIERS Consortium; Tina Pesaran,Paulo Cilas Morais Lyra,Rachid Karam,Siddhartha Yadav,Katherine L Nathanson,Susan M Domchek,Miguel de la Hoya,Mark Robson,Miika Mehine,Chaitanya Bandlamudi,Diana Mandelker,Alvaro N A Monteiro,Edwin S Iversen,Nicholas Boddicker,Wenan Chen,Marcy E Richardson,Fergus J Couch

Functional evaluation and clinical classification of BRCA2 variants

BRCA2变异体的功能评估和临床分类

Huang, Huaizhi; Hu, Chunling; Na, Jie; Hart, Steven N; Gnanaolivu, Rohan David; Abozaid, Mohamed; Rao, Tara; Tecleab, Yohannes A; Pesaran, Tina; Lyra, Paulo Cilas Morais; Karam, Rachid; Yadav, Siddhartha; Nathanson, Katherine L; Domchek, Susan M; de la Hoya, Miguel; Robson, Mark; Mehine, Miika; Bandlamudi, Chaitanya; Mandelker, Diana; Monteiro, Alvaro N A; Iversen, Edwin S; Boddicker, Nicholas; Chen, Wenan; Richardson, Marcy E; Couch, Fergus J

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

作者更正:19p13.1 乳腺癌-卵巢癌易感基因位点上多效性风险等位基因的功能机制

Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J; Li, Qiyuan; Delgado, Melissa K; Lee, Janet M; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K; Arver, Brita; Bandera, Elisa V; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Beckmann, Matthias W; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Cannioto, Rikki; Chang-Claude, Jenny; Chiquette, Jocelyne; Choi, Ji-Yeob; Claes, Kathleen B M; Cook, Linda S; Cox, Angela; Cramer, Daniel W; Cross, Simon S; Cybulski, Cezary; Czene, Kamila; Daly, Mary B; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Diez, Orland; Doherty, Jennifer A; Domchek, Susan M; Dorfling, Cecilia M; Dörk, Thilo; Dumont, Martine; Ehrencrona, Hans; Ejlertsen, Bent; Ellis, Steve; Engel, Christoph; Lee, Eunjung; Evans, D Gareth; Fasching, Peter A; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foretova, Lenka; Fostira, Florentia; Foulkes, William D; Fridley, Brooke L; Friedman, Eitan; Frost, Debra; Gambino, Gaetana; Ganz, Patricia A; Garber, Judy; García-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Ghoussaini, Maya; Giles, Graham G; Glasspool, Rosalind; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Goode, Ellen L; Goodman, Marc T; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V O; Harrington, Patricia A; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Heitz, Florian; Herzog, Josef; Høgdall, Estrid; Høgdall, Claus K; Hogervorst, Frans B L; Hollestelle, Antoinette; Hopper, John L; Hulick, Peter J; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jensen, Allan; John, Esther M; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Kapuscinski, Miroslav; Karlan, Beth Y; Khan, Sofia; Kiemeney, Lambertus A; Kjaer, Susanne Kruger; Knight, Julia A; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kupryjanczyk, Jolanta; Kwong, Ava; de la Hoya, Miguel; Laitman, Yael; Lambrechts, Diether; Le, Nhu; De Leeneer, Kim; Lester, Jenny; Levine, Douglas A; Li, Jingmei; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Loud, Jennifer T; Lu, Karen; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Le Marchand, Loic; Margolin, Sara; Marme, Frederik; Massuger, Leon F A G; Matsuo, Keitaro; Mazoyer, Sylvie; McGuffog, Lesley; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R; Milne, Roger L; Montagna, Marco; Moysich, Kirsten B; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L; Ness, Roberta B; Neuhausen, Susan L; Nevanlinna, Heli; Nord, Silje; Nussbaum, Robert L; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Olswold, Curtis; O'Malley, David; Orlow, Irene; Orr, Nick; Osorio, Ana; Park, Sue Kyung; Pearce, Celeste L; Pejovic, Tanja; Peterlongo, Paolo; Pfeiler, Georg; Phelan, Catherine M; Poole, Elizabeth M; Pylkäs, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Rhenius, Valerie; Rhiem, Kerstin; Risch, Harvey A; Rodriguez, Gus; Rossing, Mary Anne; Rudolph, Anja; Salvesen, Helga B; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schildkraut, Joellen M; Schmidt, Marjanka K; Schmutzler, Rita K; Sellers, Thomas A; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Sieh, Weiva; Singer, Christian F; Sinilnikova, Olga M; Slager, Susan; Song, Honglin; Soucy, Penny; Southey, Melissa C; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Sutter, Christian; Swerdlow, Anthony; Tchatchou, Sandrine; Teixeira, Manuel R; Teo, Soo H; Terry, Kathryn L; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria Grazia; Tihomirova, Laima; Tognazzo, Silvia; Toland, Amanda Ewart; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tung, Nadine; Tworoger, Shelley S; Vachon, Celine; van den Ouweland, Ans M W; van Doorn, Helena C; van Rensburg, Elizabeth J; Van't Veer, Laura J; Vanderstichele, Adriaan; Vergote, Ignace; Vijai, Joseph; Wang, Qin; Wang-Gohrke, Shan; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Wildiers, Hans; Winqvist, Robert; Wu, Anna H; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Khanna, Kum Kum; Simard, Jacques; Monteiro, Alvaro N; French, Juliet D; Couch, Fergus J; Freedman, Matthew L; Easton, Douglas F; Dunning, Alison M; Pharoah, Paul D; Edwards, Stacey L; Chenevix-Trench, Georgia; Antoniou, Antonis C; Gayther, Simon A

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

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

ACMG/AMP对BRCA1错义变异的解读:基于结构的评分为PP3/BP4计算证据增加了证据强度的细粒度

Ramadane-Morchadi, Lobna; Rotenberg, Nitsan; Esteban-Sánchez, Ada; Fortuno, Cristina; Gómez-Sanz, Alicia; Varga, Matthew J; Chamberlin, Adam; Richardson, Marcy E; Michailidou, Kyriaki; Pérez-Segura, Pedro; Spurdle, Amanda B; de la Hoya, Miguel

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异注释指南中关于种系PALB2序列变异分析的规范

Richardson, Marcy E; Bishop, Megan F H; Holdren, Megan A; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Brannan, Terra; Young, Colin C; Zec, Lauren; Hiraki, Susan; Turnbull, Clare; Tischkowitz, Marc; Bernstein, Kara A; Masson, Jean-Yves; McNulty, Shannon M; Pesaran, Tina; Monteiro, Alvaro N; Walker, Logan C; Foulkes, William D; Couch, Fergus J