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

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

Genomic and Immune Landscape of Pancreatic Ductal Adenocarcinoma Associated with Germline Pathogenic Variants in ATM.

与 ATM 基因种系致病变异相关的胰腺导管腺癌的基因组和免疫图谱。

Yadav Siddhartha, Bao Riyue, Graham Rondell P, Hu Chunling, Hart Steven N, Na Jie, Boddicker Nicholas, Gnanaolivu Rohan D, Smadbeck James, Ding Li, Billadeau Daniel D, Mayer Aaron T, Majumder Shounak, Morais Lyra Paulo Cilas, Lee Adrian V, Monteiro Alvaro N, Villasboas Jose C, McWilliams Robert, Couch Fergus J

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

Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.

通过全转录组关联研究鉴定与睾丸生殖细胞肿瘤易感性相关的基因

Ugalde-Morales Emilio, Wilf Rona, Pluta John, Ploner Alexander, Fan Mengyao, Damra Mohammad, Aben Katja K, Anson-Cartwright Lynn, Chen Chu, Cortessis Victoria K, Daneshmand Siamak, Ferlin Alberto, Gamulin Marija, Gietema Jourik A, Gonzalez-Niera Anna, Grotmol Tom, Hamilton Robert J, Harland Mark, Haugen Trine B, Hauser Russ, Hildebrandt Michelle A T, Karlsson Robert, Kiemeney Lambertus A, Kim Jung, Lessel Davor, Lothe Ragnhild A, Loveday Chey, Chanock Stephen J, McGlynn Katherine A, Meijer Coby, Nead Kevin T, Nsengimana Jeremie, Popovic Maja, Rafnar Thorunn, Richiardi Lorenzo, Rocca Maria S, Schwartz Stephen M, Skotheim Rolf I, Stefansson Kari, Stewart Douglas R, Turnbull Clare, Vaughn David J, Winge Sofia B, Zheng Tongzhang, Monteiro Alvaro N, Almstrup Kristian, Kanetsky Peter A, Nathanson Katherine L, Wiklund Fredrik

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

一项针对398,238名女性的全基因组关联研究揭示了与高级别浆液性卵巢癌相关的七个基因位点

Barnes, Daniel R; Tyrer, Jonathan P; Dennis, Joe; Leslie, Goska; Bolla, Manjeet K; Lush, Michael; Aeilts, Amber M; Aittomäki, Kristiina; Andrieu, Nadine; Andrulis, Irene L; Anton-Culver, Hoda; Arason, Adalgeir; Arun, Banu K; Balmaña, Judith; Bandera, Elisa V; Barkardottir, Rosa B; Berger, Lieke P V; Berrington de Gonzalez, Amy; Berthet, Pascaline; Białkowska, Katarzyna; Bjørge, Line; Blanco, Amie M; Blok, Marinus J; Bobolis, Kristie A; Bogdanova, Natalia V; Brenton, James D; Butz, Henriett; Buys, Saundra S; Caligo, Maria A; Campbell, Ian; Castillo, Carmen; Claes, Kathleen B M; Colonna, Sarah V; Cook, Linda S; Daly, Mary B; Dansonka-Mieszkowska, Agnieszka; de la Hoya, Miguel; deFazio, Anna; DePersia, Allison; Ding, Yuan Chun; Doherty, Jennifer A; Domchek, Susan M; Dörk, Thilo; Einbeigi, Zakaria; Engel, Christoph; Evans, D Gareth; Foretova, Lenka; Fortner, Renée T; Fostira, Florentia; Foti, Maria Cristina; Friedman, Eitan; Frone, Megan N; Ganz, Patricia A; Gentry-Maharaj, Aleksandra; Glendon, Gord; Godwin, Andrew K; González-Neira, Anna; Greene, Mark H; Gronwald, Jacek; Guerrieri-Gonzaga, Aliana; Hamann, Ute; Hansen, Thomas V O; Harris, Holly R; Hauke, Jan; Heitz, Florian; Hogervorst, Frans B L; Hooning, Maartje J; Hopper, John L; Huff, Chad D; Huntsman, David G; Imyanitov, Evgeny N; Izatt, Louise; Jakubowska, Anna; James, Paul A; Janavicius, Ramunas; John, Esther M; Kar, Siddhartha; Karlan, Beth Y; Kennedy, Catherine J; Kiemeney, Lambertus A L M; Konstantopoulou, Irene; Kupryjanczyk, Jolanta; Laitman, Yael; Lavie, Ofer; Lawrenson, Kate; Lester, Jenny; Lesueur, Fabienne; Lopez-Pleguezuelos, Carlos; Mai, Phuong L; Manoukian, Siranoush; May, Taymaa; McNeish, Iain A; Menon, Usha; Milne, Roger L; Modugno, Francesmary; Mongiovi, Jennifer M; Montagna, Marco; Moysich, Kirsten B; Neuhausen, Susan L; Nielsen, Finn C; Noguès, Catherine; Oláh, Edit; Olopade, Olufunmilayo I; Osorio, Ana; Papi, Laura; Pathak, Harsh; Pearce, Celeste L; Pedersen, Inge S; Peixoto, Ana; Pejovic, Tanja; Peng, Pei-Chen; Peshkin, Beth N; Peterlongo, Paolo; Powell, C Bethan; Prokofyeva, Darya; Pujana, Miquel Angel; Radice, Paolo; Rashid, Muhammad U; Rennert, Gad; Richenberg, George; Sandler, Dale P; Sasamoto, Naoko; Setiawan, Veronica W; Sharma, Priyanka; Sieh, Weiva; Singer, Christian F; Snape, Katie; Sokolenko, Anna P; Soucy, Penny; Southey, Melissa C; Stoppa-Lyonnet, Dominique; Sutphen, Rebecca; Sutter, Christian; Tan, Yen Y; Teixeira, Manuel R; Terry, Kathryn L; Thomsen, Liv Cecilie V; Tischkowitz, Marc; Toland, Amanda E; Van Gorp, Toon; Vega, Ana; Velez Edwards, Digna R; Webb, Penelope M; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Winham, Stacey J; Wu, Anna H; Yadav, Siddhartha; Yu, Yao; Ziogas, Argyrios; Berchuck, Andrew; Couch, Fergus J; Goode, Ellen L; Goodman, Marc T; Monteiro, Alvaro N; Offit, Kenneth; Ramus, Susan J; Risch, Harvey A; Schildkraut, Joellen M; Thomassen, Mads; Simard, Jacques; Easton, Douglas F; Jones, Michelle R; Chenevix-Trench, Georgia; Gayther, Simon A; Antoniou, Antonis C; Pharoah, Paul D P

The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1

BRCA1致病变异携带者罹患乳腺癌的风险取决于突变类型和位置

Kotsopoulos, Joanne; Apostol, Adriana I; Metcalfe, Kelly; Jorgji, Dimitri; Cybulski, Cezary; Gronwald, Jacek; Lubinski, Jan; Moller, Pal; Kim, Raymond H; Aeilts, Amber; Ramón Y Cajal, Teresa; Pal, Tuya; Bordeleau, Louise; Karlan, Beth Y; Singer, Christian F; Foulkes, William D; Couch, Fergus J; Zakalik, Dana; Fruscio, Robert; Tung, Nadine; Sun, Ping; Monteiro, Alvaro N; Narod, Steven A; Akbari, Mohammad R

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

ACMG/AMP 变异注释指南中关于种系 ATM 序列变异分析的规范

Richardson, Marcy E; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Young, Colin C; Zec, Lauren; Hiraki, Susan; Anderson, Michael J; Walker, Logan C; McNulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D; Cline, Melissa; Monteiro, Alvaro N; Pesaran, Tina; Couch, Fergus J

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

对影响DNA结合域的462个种系BRCA2错义变异进行功能分析和临床分类

Hu, Chunling; Huang, Huaizhi; Na, Jie; Lumby, Carolyn; Abozaid, Mohamed; Holdren, Megan A; Rao, Tara J; Karam, Rachid; Pesaran, Tina; Weyandt, Jamie D; Csuy, Christen M; Seelaus, Christina A; Young, Colin C; Fulk, Kelly; Heidari, Zahra; Morais Lyra, Paulo Cilas Jr; Couch, Ronan E; Persons, Benjamin; Polley, Eric C; Gnanaolivu, Rohan D; Boddicker, Nicholas J; Monteiro, Alvaro N A; Yadav, Siddhartha; Domchek, Susan M; Richardson, Marcy E; Couch, Fergus J

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

整合多组学分析以识别卵巢癌风险区域的潜在遗传和功能机制

Dareng, Eileen O; Coetzee, Simon G; Tyrer, Jonathan P; Peng, Pei-Chen; Rosenow, Will; Chen, Stephanie; Davis, Brian D; Dezem, Felipe Segato; Seo, Ji-Heui; Nameki, Robbin; Reyes, Alberto L; Aben, Katja K H; Anton-Culver, Hoda; Antonenkova, Natalia N; Aravantinos, Gerasimos; Bandera, Elisa V; Beane Freeman, Laura E; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Bernardini, Marcus Q; Bjorge, Line; Black, Amanda; Bogdanova, Natalia V; Bolton, Kelly L; Brenton, James D; Budzilowska, Agnieszka; Butzow, Ralf; Cai, Hui; Campbell, Ian; Cannioto, Rikki; Chang-Claude, Jenny; Chanock, Stephen J; Chen, Kexin; Chenevix-Trench, Georgia; Chiew, Yoke-Eng; Cook, Linda S; DeFazio, Anna; Dennis, Joe; Doherty, Jennifer A; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Eccles, Diana M; Ene, Gabrielle; Fasching, Peter A; Flanagan, James M; Fortner, Renée T; Fostira, Florentia; Gentry-Maharaj, Aleksandra; Giles, Graham G; Goodman, Marc T; Gronwald, Jacek; Haiman, Christopher A; Håkansson, Niclas; Heitz, Florian; Hildebrandt, Michelle A T; Høgdall, Estrid; Høgdall, Claus K; Huang, Ruea-Yea; Jensen, Allan; Jones, Michael E; Kang, Daehee; Karlan, Beth Y; Karnezis, Anthony N; Kelemen, Linda E; Kennedy, Catherine J; Khusnutdinova, Elza K; Kiemeney, Lambertus A; Kjaer, Susanne K; Kupryjanczyk, Jolanta; Labrie, Marilyne; Lambrechts, Diether; Larson, Melissa C; Le, Nhu D; Lester, Jenny; Li, Lian; Lubiński, Jan; Lush, Michael; Marks, Jeffrey R; Matsuo, Keitaro; May, Taymaa; McLaughlin, John R; McNeish, Iain A; Menon, Usha; Missmer, Stacey; Modugno, Francesmary; Moffitt, Melissa; Monteiro, Alvaro N; Moysich, Kirsten B; Narod, Steven A; Nguyen-Dumont, Tu; Odunsi, Kunle; Olsson, Håkan; Onland-Moret, N Charlotte; Park, Sue K; Pejovic, Tanja; Permuth, Jennifer B; Piskorz, Anna; Prokofyeva, Darya; Riggan, Marjorie J; Risch, Harvey A; Rodríguez-Antona, Cristina; Rossing, Mary Anne; Sandler, Dale P; Setiawan, V Wendy; Shan, Kang; Song, Honglin; Southey, Melissa C; Steed, Helen; Sutphen, Rebecca; Swerdlow, Anthony J; Teo, Soo Hwang; Terry, Kathryn L; Thompson, Pamela J; Vestrheim Thomsen, Liv Cecilie; Titus, Linda; Trabert, Britton; Travis, Ruth; Tworoger, Shelley S; Valen, Ellen; Van Nieuwenhuysen, Els; Edwards, Digna Velez; Vierkant, Robert A; Webb, Penelope M; Weinberg, Clarice R; Weise, Rayna Matsuno; Wentzensen, Nicolas; White, Emily; Winham, Stacey J; Wolk, Alicja; Woo, Yin-Ling; Wu, Anna H; Yan, Li; Yannoukakos, Drakoulis; Zeinomar, Nur; Zheng, Wei; Ziogas, Argyrios; Berchuck, Andrew; Goode, Ellen L; Huntsman, David G; Pearce, Celeste L; Ramus, Susan J; Sellers, Thomas A; Freedman, Matthew L; Lawrenson, Kate; Schildkraut, Joellen M; Hazelett, Dennis; Plummer, Jasmine T; Kar, Siddhartha; Jones, Michelle R; Pharoah, Paul D P; Gayther, Simon A