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

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

Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism

GCM2基因的种系突变导致一种新的遗传性原发性甲状旁腺功能亢进症变异型。

Iacobone, Maurizio; Watutantrige-Fernando, Sara; Zovato, Stefania; Tognazzo, Silvia; Dughiero, Silvia; Augenti, Veronica; Camozzi, Valentina; Mian, Caterina; Torresan, Francesca; Nomine-Criqui, Claire; Brunaud, Laurent

Multicenter Real-World Study on Effectiveness and Early Discontinuation Predictors in Patients With Non-small Cell Lung Cancer Receiving Nivolumab

一项关于纳武利尤单抗治疗非小细胞肺癌患者的疗效和早期停药预测因素的多中心真实世界研究

Pasello, Giulia; Lorenzi, Martina; Calvetti, Lorenzo; Oliani, Cristina; Pavan, Alberto; Favaretto, Adolfo; Palazzolo, Giovanni; Giovanis, Petros; Zustovich, Fable; Bonetti, Andrea; Bernardi, Daniele; Mandarà, Marta; Aprile, Giuseppe; Crivellaro, Giovanna; Sinigaglia, Giusy; Tognazzo, Sandro; Morandi, Paolo; Bortolami, Alberto; Marino, Valentina; Bonanno, Laura; Guarneri, Valentina; Conte, PierFranco

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

BRCA1和BRCA2基因组结构域与前列腺癌风险和侵袭性的关联

Patel, Vivek L; Busch, Evan L; Friebel, Tara M; Cronin, Angel; Leslie, Goska; McGuffog, Lesley; Adlard, Julian; Agata, Simona; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Artioli, Grazia; Arver, Brita; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R; Barroso, Alicia; Barrowdale, Daniel; Belotti, Muriel; Benitez, Javier; Bertelsen, Birgitte; Blok, Marinus J; Bodrogi, Istvan; Bonadona, Valérie; Bonanni, Bernardo; Bondavalli, Davide; Boonen, Susanne E; Borde, Julika; Borg, Ake; Bradbury, Angela R; Brady, Angela; Brewer, Carole; Brunet, Joan; Buecher, Bruno; Buys, Saundra S; Cabezas-Camarero, Santiago; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Campbell, Ian G; Carnevali, Ileana; Carrasco, Estela; Chan, Tsun L; Chu, Annie T W; Chung, Wendy K; Claes, Kathleen B M; Collaborators, Gemo Study; Collaborators, Embrace; Cook, Jackie; Cortesi, Laura; Couch, Fergus J; Daly, Mary B; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; Puppa, Lara Della; Dennis, Joe; Díez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Donaldson, Alan; Dworniczak, Bernd; Easton, Douglas F; Eccles, Diana M; Eeles, Rosalind A; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Evans, D Gareth; Faivre, Laurence; Faust, Ulrike; Feliubadaló, Lídia; Foretova, Lenka; Fostira, Florentia; Fountzilas, George; Frost, Debra; García-Barberán, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Géczi, Lajos; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gutierrez-Barrera, Angelica M; Hahnen, Eric; Hamann, Ute; Hauke, Jan; Herold, Natalie; Hogervorst, Frans B L; Honisch, Ellen; Hopper, John L; Hulick, Peter J; Investigators, KConFab; Investigators, Hebon; Izatt, Louise; Jager, Agnes; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; Jensen, Thomas Dyrso; Johannsson, Oskar Th; John, Esther M; Joseph, Vijai; Kang, Eunyoung; Kast, Karin; Kiiski, Johanna I; Kim, Sung-Won; Kim, Zisun; Ko, Kwang-Pil; Konstantopoulou, Irene; Kramer, Gero; Krogh, Lotte; Kruse, Torben A; Kwong, Ava; Larsen, Mirjam; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Lee, Jihyoun; Lee, Jong Won; Lee, Min Hyuk; Lemke, Johannes; Lesueur, Fabienne; Liljegren, Annelie; Lindblom, Annika; Llovet, Patricia; Lopez-Fernández, Adria; Lopez-Perolio, Irene; Lorca, Victor; Loud, Jennifer T; Ma, Edmond S K; Mai, Phuong L; Manoukian, Siranoush; Mari, Veronique; Martin, Lynn; Matricardi, Laura; Mebirouk, Noura; Medici, Veronica; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Miller, Clare; Gomes, Denise Molina; Montagna, Marco; Mooij, Thea M; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Mulligan, Anna Marie; Nathanson, Katherine L; Navratilova, Marie; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn C Cilius; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; Osorio, Ana; Ott, Claus-Eric; Palli, Domenico; Park, Sue K; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Pérez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth Høgh; Porteous, Mary E; Pujana, Miguel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rashid, Muhammad U; Rhiem, Kerstin; Rizzolo, Piera; Robson, Mark E; Rookus, Matti A; Rossing, Caroline M; Ruddy, Kathryn J; Santos, Catarina; Saule, Claire; Scarpitta, Rosa; Schmutzler, Rita K; Schuster, Hélène; Senter, Leigha; Seynaeve, Caroline M; Shah, Payal D; Sharma, Priyanka; Shin, Vivian Y; Silvestri, Valentina; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Snape, Katie; Solano, Angela R; Soucy, Penny; Southey, Melissa C; Spurdle, Amanda B; Steele, Linda; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Stradella, Agostina; Sunde, Lone; Sutter, Christian; Tan, Yen Y; Teixeira, Manuel R; Teo, Soo Hwang; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tommasi, Stefania; Torres, Diana; Toss, Angela; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Baan, Frederieke H; van der Kolk, Lizet E; van der Luijt, Rob B; van Hest, Liselotte P; Varesco, Liliana; Varon-Mateeva, Raymonda; Viel, Alessandra; Vierstraete, Jeroen; Villa, Roberta; von Wachenfeldt, Anna; Wagner, Philipp; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N; Wieme, Greet; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zorn, Kristin K; D'Amico, Anthony V; Freedman, Matthew L; Pomerantz, Mark M; Chenevix-Trench, Georgia; Antoniou, Antonis C; Neuhausen, Susan L; Ottini, Laura; Nielsen, Henriette Roed; Rebbeck, Timothy R

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

BRCA1和BRCA2致病变异携带者的多基因风险评分与乳腺癌和上皮性卵巢癌风险

Barnes, Daniel R; Rookus, Matti A; McGuffog, Lesley; Leslie, Goska; Mooij, Thea M; Dennis, Joe; Mavaddat, Nasim; Adlard, Julian; Ahmed, Munaza; Aittomäki, Kristiina; Andrieu, Nadine; Andrulis, Irene L; Arnold, Norbert; Arun, Banu K; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Białkowska, Katarzyna; Blanco, Amie M; Blok, Marinus J; Bonanni, Bernardo; Boonen, Susanne E; Borg, Åke; Bozsik, Aniko; Bradbury, Angela R; Brennan, Paul; Brewer, Carole; Brunet, Joan; Buys, Saundra S; Caldés, Trinidad; Caligo, Maria A; Campbell, Ian; Christensen, Lise Lotte; Chung, Wendy K; Claes, Kathleen B M; Colas, Chrystelle; Collonge-Rame, Marie-Agnès; Cook, Jackie; Daly, Mary B; Davidson, Rosemarie; de la Hoya, Miguel; de Putter, Robin; Delnatte, Capucine; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M; Dorfling, Cecilia M; Dumont, Martine; Eeles, Ros; Ejlertsen, Bent; Engel, Christoph; Evans, D Gareth; Faivre, Laurence; Foretova, Lenka; Fostira, Florentia; Friedlander, Michael; Friedman, Eitan; Frost, Debra; Ganz, Patricia A; Garber, Judy; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; González-Neira, Anna; Greene, Mark H; Gschwantler-Kaulich, Daphne; Hahnen, Eric; Hamann, Ute; Hanson, Helen; Hentschel, Julia; Hogervorst, Frans B L; Hooning, Maartje J; Horvath, Judit; Hu, Chunling; Hulick, Peter J; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A; Janavicius, Ramunas; John, Esther M; Joseph, Vijai; Karlan, Beth Y; Kast, Karin; Koudijs, Marco; Kruse, Torben A; Kwong, Ava; Laitman, Yael; Lasset, Christine; Lazaro, Conxi; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Loud, Jennifer T; Lubiński, Jan; Mai, Phuong L; Manoukian, Siranoush; Mari, Véronique; Mebirouk, Noura; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Miller, Austin; Montagna, Marco; Mouret-Fourme, Emmanuelle; Mukherjee, Semanti; Mulligan, Anna Marie; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn Cilius; Nikitina-Zake, Liene; Noguès, Catherine; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; O'Shaughnessy-Kirwan, Aoife; Osorio, Ana; Ott, Claus-Eric; Papi, Laura; Park, Sue K; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Peterlongo, Paolo; Pfeiler, Georg; Phillips, Kelly-Anne; Prajzendanc, Karolina; Pujana, Miquel Angel; Radice, Paolo; Ramser, Juliane; Ramus, Susan J; Rantala, Johanna; Rennert, Gad; Risch, Harvey A; Robson, Mark; Rønlund, Karina; Salani, Ritu; Schuster, Hélène; Senter, Leigha; Shah, Payal D; Sharma, Priyanka; Side, Lucy E; Singer, Christian F; Slavin, Thomas P; Soucy, Penny; Southey, Melissa C; Spurdle, Amanda B; Steinemann, Doris; Steinsnyder, Zoe; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R; Teo, Soo Hwang; Thull, Darcy L; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Trainer, Alison H; Tung, Nadine; van Engelen, Klaartje; van Rensburg, Elizabeth J; Vega, Ana; Vierstraete, Jeroen; Wagner, Gabriel; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N; Yadav, Siddhartha; Yang, Xin; Yannoukakos, Drakoulis; Zimbalatti, Dario; Offit, Kenneth; Thomassen, Mads; Couch, Fergus J; Schmutzler, Rita K; Simard, Jacques; Easton, Douglas F; Chenevix-Trench, Georgia; Antoniou, Antonis C

Use of Electronic Administrative Databases to Measure Quality Indicators of Breast Cancer Care: Experience of Five Regional Oncology Networks in Italy

利用电子管理数据库衡量乳腺癌诊疗质量指标:意大利五个区域肿瘤网络的经验

Guarneri, Valentina; Pronzato, Paolo; Bertetto, Oscar; Roila, Fausto; Amunni, Gianni; Bortolami, Alberto; Tognazzo, Sandro; Griguolo, Gaia; Pagano, Eva; Stracci, Fabrizio; Bianconi, Fortunato; Gemmi, Fabrizio; Bachini, Letizia; Ciccone, Giovannino; Paoli, Gabriella; Paleari, Laura; Conte, Pier Franco

Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition

对多个家族中 BRCA2 c.9227G>T 变异的遗传分离分析表明,该变异在乳腺癌和卵巢癌的易感性中起致病作用。

Agata, Simona; Tognazzo, Silvia; Alducci, Elisa; Matricardi, Laura; Moserle, Lidia; Barana, Daniela; Montagna, Marco

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

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

BRCA1 和 BRCA2 变异的大规模多因素似然定量分析:支持临床变异分类的 ENIGMA 资源

Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso-Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M; Dutrannoy, Véronique; Eccles, Diana M; Ehrencrona, Hans; Enders, Ute; Evans, D Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D; Galvao, Henrique C R; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gómez, Carolina; Gómez Garcia, Encarna B; González, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutiérrez-Enríquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V O; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Hübbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A; Janssen, Linda A M; Jeschke, Udo; Kaulfuß, Silke; Keupp, Katharina; Kiechle, Marion; Kölbl, Alexandra; Krieger, Sophie; Kruse, Torben A; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L; Lim, Joanna; Loeffler, Markus; López-Fernández, Adrià; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D; Moghadasi, Setareh; Moles-Fernández, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N; Montes, Eva; Mori, Luigi; Moserle, Lidia; Müller, Clemens R; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B; Niederacher, Dieter; Nielsen, Henriette R; Ong, Kai-Ren; Pachter, Nicholas; Palmero, Edenir I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K; Porfirio, Berardino; Quante, Anne S; Ramser, Juliane; Reis, Rui M; Revillion, Françoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sánchez de Abajo, Ana María; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiß, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V; Teo, Soo H; Teulé, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tornero, Eva; Törngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H; Tucker, Katherine M; van Asperen, Christi J; van Mackelenbergh, Marion T; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ángela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P G; Wagner, Sebastian A; Waha, Anke; Walker, Logan C; Walters, Rhiannon J; Wang-Gohrke, Shan; Weber, Bernhard H F; Weichert, Wilko; Wieland, Kerstin; Wiesmüller, Lisa; Witzel, Isabell; Wöckel, Achim; Woodward, Emma R; Zachariae, Silke; Zampiga, Valentina; Zeder-Göß, Christine; Lázaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K; Goldgar, David E; Spurdle, Amanda B

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

一项针对全球29700个携带BRCA1或BRCA2突变家族的研究揭示了突变谱

Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I; Solano, Angela R; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N; Chan, T L; Couch, Fergus J; Goldgar, David E; Kruse, Torben A; Palmero, Edenir Inêz; Park, Sue Kyung; Torres, Diana; van Rensburg, Elizabeth J; McGuffog, Lesley; Parsons, Michael T; Leslie, Goska; Aalfs, Cora M; Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmaña, Judith; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M; Blazer, Kathleen R; Blok, Marinus J; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A; Campbell, Ian; Caputo, Sandrine M; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Collée, J Margriet; Cook, Jackie; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Pauw, Antoine; Delnatte, Capucine; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Dorfling, Cecilia M; Velazquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Easton, Douglas F; Eeles, Ros; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Engert, Stefanie; Evans, D Gareth; Faivre, Laurence; Feliubadaló, Lidia; Ferrer, Sandra Fert; Foretova, Lenka; Fowler, Jeffrey; Frost, Debra; Galvão, Henrique C R; Ganz, Patricia A; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Greene, Mark H; Gronwald, Jacek; Gutierrez-Barrera, Angelica; Hahnen, Eric; Hauke, Jan; Henderson, Alex; Hentschel, Julia; Hogervorst, Frans B L; Honisch, Ellen; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Vijai, Joseph; Kaczmarek, Katarzyna; Karlan, Beth Y; Kast, Karin; Investigators, KConFab; Kim, Sung-Won; Konstantopoulou, Irene; Korach, Jacob; Laitman, Yael; Lasa, Adriana; Lasset, Christine; Lázaro, Conxi; Lee, Annette; Lee, Min Hyuk; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Lindor, Noralane M; Longy, Michel; Loud, Jennifer T; Lu, Karen H; Lubinski, Jan; Machackova, Eva; Manoukian, Siranoush; Mari, Véronique; Martínez-Bouzas, Cristina; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Mickys, Ugnius; Miller, Austin; Montagna, Marco; Moysich, Kirsten B; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L; Nevanlinna, Heli; Ngeow, Joanne; Nguyen, Huu Phuc; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L; Offit, Kenneth; Öfverholm, Anna; Ong, Kai-Ren; Osorio, Ana; Papi, Laura; Papp, Janos; Pasini, Barbara; Pedersen, Inge Sokilde; Peixoto, Ana; Peruga, Nina; Peterlongo, Paolo; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Pujol, Pascal; Radice, Paolo; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad Usman; Rhiem, Kerstin; Robson, Mark; Rodriguez, Gustavo C; Rogers, Mark T; Rudaitis, Vilius; Schmidt, Ane Y; Schmutzler, Rita Katharina; Senter, Leigha; Shah, Payal D; Sharma, Priyanka; Side, Lucy E; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Slavin, Thomas P; Snape, Katie; Sobol, Hagay; Southey, Melissa; Steele, Linda; Steinemann, Doris; Sukiennicki, Grzegorz; Sutter, Christian; Szabo, Csilla I; Tan, Yen Y; Teixeira, Manuel R; Terry, Mary Beth; Teulé, Alex; Thomas, Abigail; Thull, Darcy L; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Hout, Annemieke H; van der Kolk, Lizet E; van der Luijt, Rob B; Van Heetvelde, Mattias; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Villarreal-Garza, Cynthia; von Wachenfeldt, Anna; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H F; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zidan, Jamal; Zorn, Kristin K; Hutten Selkirk, Christina G; Hulick, Peter J; Chenevix-Trench, Georgia; Spurdle, Amanda B; Antoniou, Antonis C; Nathanson, Katherine L