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

Association of gene variant type and location with breast cancer risk in the general population

基因变异类型和位置与一般人群乳腺癌风险的关联

Akamandisa, M P; Boddicker, N J; Yadav, S; Hu, C; Hart, S N; Ambrosone, C B; Anton-Culver, H; Auer, P L; Bodelon, C; Burnside, E S; Chen, F; Eliassen, A H; Goldgar, D E; Haiman, C; Hodge, J M; Huang, H; John, E M; Karam, R; Lacey, J V; Lindstroem, S; Martinez, M E; Na, J; Neuhausen, S L; O'Brien, K M; Olson, J E; Pal, T; Palmer, J R; Patel, A V; Pesaran, T; Polley, E C; Richardson, M E; Ruddy, K J; Sandler, D P; Teras, L R; Trentham-Dietz, A; Vachon, C M; Weinberg, C; Winham, S J; Yao, S; Zirpoli, G; Kraft, P; Weitzel, J N; Domchek, S M; Couch, F J; Nathanson, K L

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

对超过40万名女性的分析为BRCA1和BRCA2变异分类提供了病例对照证据。

Zanti, Maria; O'Mahony, Denise G; Parsons, Michael T; Dorling, Leila; Dennis, Joe; Boddicker, Nicholas J; Chen, Wenan; Hu, Chunling; Naven, Marc; Yiangou, Kristia; Ahearn, Thomas U; Ambrosone, Christine B; Andrulis, Irene L; Antoniou, Antonis C; Auer, Paul L; Baynes, Caroline; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Brantley, Kristen D; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chen, Fei; Chenevix-Trench, Georgia; Conroy, Don M; Czene, Kamila; De Nicolo, Arcangela; Domchek, Susan M; Dörk, Thilo; Dunning, Alison M; Eliassen, A Heather; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; González-Neira, Anna; Grassmann, Felix; Hadjisavvas, Andreas; Haiman, Christopher A; Hamann, Ute; Hart, Steven N; Hartman, Mikael B A; Ho, Weang-Kee; Hodge, James M; Hoppe, Reiner; Howell, Sacha J; Jakubowska, Anna; Khusnutdinova, Elza K; Ko, Yon-Dschun; Kraft, Peter; Kristensen, Vessela N; Lacey, James V; Li, Jingmei; Lim, Geok Hoon; Lindström, Sara; Lophatananon, Artitaya; Luccarini, Craig; Mannermaa, Arto; Martinez, Maria Elena; Mavroudis, Dimitrios; Milne, Roger L; Muir, Kenneth; Nathanson, Katherine L; Nuñez-Torres, Rocio; Obi, Nadia; Olson, Janet E; Palmer, Julie R; Panayiotidis, Mihalis I; Patel, Alpa V; Pharoah, Paul D P; Polley, Eric C; Rashid, Muhammad U; Ruddy, Kathryn J; Saloustros, Emmanouil; Sawyer, Elinor J; Schmidt, Marjanka K; Southey, Melissa C; Tan, Veronique Kiak-Mien; Teo, Soo Hwang; Teras, Lauren R; Torres, Diana; Trentham-Dietz, Amy; Truong, Thérèse; Vachon, Celine M; Wang, Qin; Weitzel, Jeffrey N; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary R; Cline, Melissa S; Devilee, Peter; Tavtigian, Sean V; Goldgar, David E; Couch, Fergus J; Easton, Douglas F; Spurdle, Amanda B; Michailidou, Kyriaki

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

Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast

癌症易感基因中的致病变异会增加乳腺导管原位癌的发生风险。

Huang, Huaizhi; Couch, Ronan E; Karam, Rachid; Hu, Chunling; Boddicker, Nicholas; Polley, Eric C; Na, Jie; Ambrosone, Christine B; Yao, Song; Trentham-Dietz, Amy; Eliassen, A Heather; Penney, Kathryn; Brantley, Kristen; Bodelon, Clara; Teras, Lauren R; Hodge, James; Patel, Alpa; Haiman, Christopher A; John, Esther M; Neuhausen, Susan L; Martinez, Elena; Lacey, James V; O'Brien, Katie M; Sandler, Dale P; Weinberg, Clarice R; Palmer, Julie R; Bertrand, Kimberly A; Vachon, Celine M; Olson, Janet E; Ruddy, Kathryn E; Anton-Culver, Hoda; Ziogas, Argyrios; Goldgar, David E; Nathanson, Katherine L; Domchek, Susan M; Weitzel, Jeffrey N; Kraft, Peter; Dolinsky, Jill S; Pesaran, Tina; Richardson, Marcy E; Yadav, Siddhartha; Couch, Fergus J

When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions

当二加四不等于六时:结合计算和功能证据对 BRCA1 关键结构域错义突变进行分类

Pew, Scott T; Wiffler, Madison B; Thomas, Alun; Boyle, Julie L; Cline, Melissa S; Camp, Nicola J; Goldgar, David E; Tavtigian, Sean V

Assessing the Formal Integration of a Student-Run Free Clinic for People Experiencing Homelessness Into a Medical School Curriculum

评估将学生运营的、为无家可归者提供免费服务的诊所正式纳入医学院课程的可行性

Zhang, Felicia; Burrows, Austin; Allas, Corinne; Goldgar, Sarah

From Pruritus to Bullae: Recognizing Furosemide-Induced Bullous Pemphigoid in an Elderly Male Patient

从瘙痒到大疱:识别老年男性患者呋塞米诱发的类天疱疮

Johnsen, Nicole; Goldgar, Sarah

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B

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

Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk

构建整合单基因、多基因和流行病学风险的乳腺癌风险预测模型

Kalia, Sarah S; Boddicker, Nicholas J; Yadav, Siddhartha; Huang, Hongyan; Na, Jie; Hu, Chunling; Ambrosone, Christine B; Yao, Song; Haiman, Christopher A; Chen, Fei; John, Esther M; Kurian, Allison W; Guo, Boya; Lindstrӧm, Sara; Auer, Paul; Lacey, James V Jr; Neuhausen, Susan L; Martinez, Maria Elena; Sandler, Dale P; O'Brien, Katie M; Taylor, Jack A; Teras, Lauren R; Hodge, James M; Lori, Adriana; Bodelon, Clara; Trentham-Dietz, Amy; Burnside, Elizabeth S; Vachon, Celine M; Winham, Stacey J; Goldgar, David E; Domchek, Susan M; Nathanson, Katherine L; Weitzel, Jeffrey N; Couch, Fergus J; Kraft, Peter