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Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome 全基因组测序完成了林奇综合征患者的分子遗传学检测工作流程。 Horti-Oravecz, Klaudia; Bozsik, Aniko; Pocza, Timea; Vereczkey, Ildiko; Strausz, Tamas; Toth, Erika; Sedlackova, Tatiana; Rusnakova, Diana; Szemes, Tomas; Liko, Istvan; Olah, Edit; Butz, Henriett; Patocs, Attila; Papp, Janos; Grolmusz, Vince Kornel 分享 收藏
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Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma (vol 13, 16339, 2023) Palla, Sara; Toke, Judit; Bozsik, Aniko; Butz, Henriett; Papp, Janos; Liko, Istvan; Kuroli, Eniko; Banvolgyi, Andras; Hamar, Matyas; Bertherat, Jerome; Medvecz, Marta; Patocs, Attila 分享 收藏
Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma Palla, Sara; Toke, Judit; Bozsik, Aniko; Butz, Henriett; Papp, Janos; Liko, Istvan; Kuroli, Eniko; Banvolgyi, Andras; Hamar, Matyas; Bertherat, Jerome; Medvecz, Marta; Patocs, Attila 分享 收藏
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Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome Igaz, Peter; Toth, Geza; Nagy, Peter; Dezso, Katalin; Turai, Peter Istvan; Medvecz, Marta; Wikonkal, Norbert; Huszty, Gergely; Piros, Laszlo; Toth, Erika; Bozsik, Aniko; Liko, Istvan; Patocs, Attila; Butz, Henriett 分享 收藏
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores 使用多基因风险评分的男性BRCA1和BRCA2致病性变异携带者的乳腺癌和前列腺癌风险 Barnes, Daniel R.; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A.; Ahmed, Munaza; Aittomaki, Kristiina; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Barwell, Julian; Belotti, Muriel; Benitez, Javier; Berthet, Pascaline; Boonen, Susanne E.; Borg, Ake; Bozsik, Aniko; Brady, Angela F.; Brennan, Paul; Brewer, Carole; Brunet, Joan; Bucalo, Agostino; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Cassingham, Hayley; Christensen, Lise Lotte; Cini, Giulia; Claes, Kathleen B. M.; Cook, Jackie; Coppa, Anna; Cortesi, Laura; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Putter, Robin; Del Valle, Jesus; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Eeles, Ros; Engel, Christoph; Evans, D. Gareth; Feliubadalo, Lidia; Fostira, Florentia; Frone, Megan; Frost, Debra; Gallagher, David; Gehrig, Andrea; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Gregory, Helen; Gross, Eva; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V. O.; Hanson, Helen; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Izquierdo, Angel; James, Paul A.; Janavicius, Ramunas; Jensen, Uffe Birk; Johannsson, Oskar Th; John, Esther M.; Kramer, Gero; Kroeldrup, Lone; Kruse, Torben A.; Lautrup, Charlotte; Lazaro, Conxi; Lesueur, Fabienne; Lopez-Fernandez, Adria; Mai, Phuong L.; Manoukian, Siranoush; Matrai, Zoltan; Matricardi, Laura; Maxwell, Kara N.; Mebirouk, Noura; Meindl, Alfons; Montagna, Marco; Monteiro, Alvaro N.; Morrison, Patrick J.; Muranen, Taru A.; Murray, Alex; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Tu Nguyen-Dumont; Niederacher, Dieter; Olah, Edith; Olopade, Olufunmilayo, I; Palli, Domenico; Parsons, Michael T.; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth H.; Pinto, Pedro; Porteous, Mary E.; Pottinger, Caroline; Pujana, Miquel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Robson, Mark; Rogers, Mark T.; Ronlund, Karina; Rump, Andreas; Sanchez de Abajo, Ana Maria; Shah, Payal D.; Sharif, Saba; Side, Lucy E.; Singer, Christian F.; Stadler, Zsofia; Steele, Linda; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teule, Alex; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Tommasi, Stefania; Toss, Angela; Trainer, Alison H.; Tripathi, Vishakha; Valentini, Virginia; van Asperen, Christi J.; Venturelli, Marta; Viel, Alessandra; Vijai, Joseph; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Whaite, Anna; Zanna, Ines; Offit, Kenneth; Thomassen, Mads; Couch, Fergus J.; Schmutzler, Rita K.; Simard, Jacques; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Ottini, Laura 分享 收藏
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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和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; Aittomaki, Kristiina; Andrieu, Nadine; Andrulis, Irene L.; Arnold, Norbert; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Bialkowska, Katarzyna; Blanco, Amie M.; Blok, Marinus J.; Bonanni, Bernardo; Boonen, Susanne E.; Borg, Ake; Bozsik, Aniko; Bradbury, Angela R.; Brennan, Paul; Brewer, Carole; Brunet, Joan; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Christensen, Lise Lotte; Chung, Wendy K.; Claes, Kathleen B. M.; Colas, Chrystelle; Collonge-Rame, Marie-Agnes; 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.; Gonzalez-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.; Lubinski, Jan; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; 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; Nogues, 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; Ronlund, Karina; Salani, Ritu; Schuster, Helene; 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. 分享 收藏
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer 鉴定与雌激素受体阴性乳腺癌风险相关的十种变异 Milne, Roger L.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Beesley, Jonathan; Kar, Siddhartha; Lindstrom, Sara; Hui, Shirley; Lemacon, Audrey; Soucy, Penny; Dennis, Joe; Jiang, Xia; Rostamianfar, Asha; Finucane, Hilary; Bolla, Manjeet K.; McGuffog, Lesley; Wang, Qin; Aalfs, Cora M.; Adams, Marcia; Adlard, Julian; Agata, Simona; Ahmed, Shahana; Ahsan, Habibul; Aittomaki, Kristiina; Al-Ejeh, Fares; Allen, Jamie; Ambrosone, Christine B.; Amos, Christopher I.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Auber, Bernd; Auer, Paul L.; Ausems, Margreet G. E. M.; Azzollini, Jacopo; Bacot, Francois; Balmana, Judith; Barile, Monica; Barjhoux, Laure; Barkardottir, Rosa B.; Barrdahl, Myrto; Barnes, Daniel; Barrowdale, Daniel; Baynes, Caroline; Beckmann, Matthias W.; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Bignon, Yves-Jean; Blazer, Kathleen R.; Blok, Marinus J.; Blomqvist, Carl; Blot, William; Bobolis, Kristie; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Bozsik, Aniko; Bradbury, Angela R.; Brand, Judith S.; Brauch, Hiltrud; Brenner, Hermann; Bressac-de Paillerets, Brigitte; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks-Wilson, Angela; Brunet, Joan; Bruening, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Byun, Jinyoung; Cai, Qiuyin; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Canzian, Federico; Caron, Olivier; Carracedo, Angel; Carter, Brian D.; Esteban Castelao, J.; Castera, Laurent; Caux-Moncoutier, Virginie; Chan, Salina B.; Chang-Claude, Jenny; Chanock, Stephen J.; Chen, Xiaoqing; Cheng, Ting-Yuan David; Chiquette, Jocelyne; Christiansen, Hans; Claes, Kathleen B. M.; Clarke, Christine L.; Conner, Thomas; Conroy, Don M.; Cook, Jackie; Cordina-Duverger, Emilie; Cornelissen, Sten; Coupier, Isabelle; Cox, Angela; Cox, David G.; Cross, Simon S.; Cuk, Katarina; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Darabi, Hatef; Davidson, Rosemarie; De Leeneer, Kim; Devilee, Peter; Dicks, Ed; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Doheny, Kimberly F.; Domchek, Susan M.; Dorfling, Cecilia M.; Doerk, Thilo; dos-Santos-Silva, Isabel; Dubois, Stephane; Dugue, Pierre-Antoine; Dumont, Martine; Dunning, Alison M.; Durcan, Lorraine; Dwek, Miriam; Dworniczak, Bernd; Eccles, Diana; Eeles, Ros; Ehrencrona, Hans; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B.; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Fachal, Laura; Faivre, Laurence; Fasching, Peter A.; Faust, Ulrike; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foulkes, William D.; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gabrielson, Marike; Gaddam, Pragna; Gammon, Marilie D.; Ganz, Patricia A.; Gapstur, Susan M.; Garber, Judy; Garcia-Barberan, Vanesa; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Gauthier-Villars, Marion; Gehrig, Andrea; Georgoulias, Vassilios; Gerdes, Anne-Marie; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Goodfellow, Paul; Greene, Mark H.; Alnaes, Grethe I. Grenaker; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Gschwantler-Kaulich, Daphne; Guenel, Pascal; Guo, Qi; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Hakansson, Niclas; Hallberg, Emily; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Hansen, Thomas V. O.; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Healey, Catherine S.; Hein, Alexander; Helbig, Sonja; Henderson, Alex; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Hodgson, Shirley; Hogervorst, Frans B.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Bob; Hopper, John L.; Hu, Chunling; Huang, Guanmengqian; Hulick, Peter J.; Humphreys, Keith; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Iwasaki, Motoki; Izatt, Louise; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Janni, Wolfgang; Jensen, Uffe Birk; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kast, Karin; Keeman, Renske; Kerin, Michael J.; Kets, Carolien M.; Keupers, Machteld; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela N.; Kruse, Torben A.; Kwong, Ava; Laenkholm, Anne-Vibeke; Laitman, Yael; Lalloo, Fiona; Lambrechts, Diether; Landsman, Keren; Lasset, Christine; Lazaro, Conxi; Le Marchand, Loic; Lecarpentier, Julie; Lee, Andrew; Lee, Eunjung; Lee, Jong Won; Lee, Min Hyuk; Lejbkowicz, Flavio; Lesueur, Fabienne; Li, Jingmei; Lilyquist, Jenna; Lincoln, Anne; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Loud, Jennifer T.; Lubinski, Jan; Luccarini, Craig; Lush, Michael; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Kostovska, Ivana Maleva; Malone, Kathleen E.; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Martens, John W. M.; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; Mazoyer, Sylvie; McLean, Catriona; Meijers-Heijboer, Hanne; Menendez, Primitiva; Meyer, Jeffery; Miao, Hui; Miller, Austin; Miller, Nicola; Mitchell, Gillian; Montagna, Marco; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Nadesan, Sue; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nevelsteen, Ines; Niederacher, Dieter; Nielsen, Sune F.; Nordestgaard, Borge G.; Norman, Aaron; Nussbaum, Robert L.; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Janet E.; Olswold, Curtis; Ong, Kai-ren; Oosterwijk, Jan C.; Orr, Nick; Osorio, Ana; Pankratz, V. Shane; Papi, Laura; Park-Simon, Tjoung-Won; Paulsson-Karlsson, Ylva; Lloyd, Rachel; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Perez, Jose I. A.; Peterlongo, Paolo; Peto, Julian; Pfeiler, Georg; Phelan, Catherine M.; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Poppe, Bruce; Porteous, Mary E.; Prentice, Ross; Presneau, Nadege; Prokofieva, Darya; Pugh, Elizabeth; Angel Pujana, Miquel; Pylkas, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Rennert, Hedy S.; Rhenius, Valerie; Rhiem, Kerstin; Richardson, Andrea; Rodriguez, Gustavo C.; Romero, Atocha; Romm, Jane; Rookus, Matti A.; Rudolph, Anja; Ruediger, Thomas; Saloustros, Emmanouil; Sanders, Joyce; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schoemaker, Minouk J.; Schumacher, Fredrick; Schuermann, Peter; Schwentner, Lukas; Scott, Christopher; Scott, Rodney J.; Seal, Sheila; Senter, Leigha; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Xin; Shimelis, Hermela; Shrubsole, Martha J.; Shu, Xiao-Ou; Side, Lucy E.; Singer, Christian F.; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Spurdle, Amanda B.; Stegmaier, Christa; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Surowy, Harald; Sutter, Christian; Swerdlow, Anthony; Szabo, Csilla I.; Tamimi, Rulla M.; Tan, Yen Y.; Taylor, Jack A.; Tejada, Maria-Isabel; Tengstrom, Maria; Teo, Soo H.; Terry, Mary B.; Tessier, Daniel C.; Teule, Alex; Thoene, Kathrin; Thull, Darcy L.; Tibiletti, Maria Grazia; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda E.; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Tranchant, Martine; Truong, Therese; Tucker, Kathy; Tung, Nadine; Tyrer, Jonathan; Ulmer, Hans-Ulrich; Vachon, Celine; van Asperen, Christi J.; Van Den Berg, David; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Viel, Alessandra; Vijai, Joseph; Vincent, Daniel; Vollenweider, Jason; Walker, Lisa; Wang, Zhaoming; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wendt, Camilla; Wesseling, Jelle; Whittemore, Alice S.; Wijnen, Juul T.; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yang, Xiaohong R.; Yannoukakos, Drakoulis; Zaffaroni, Daniela; Zheng, Wei; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Zorn, Kristin K.; Gago-Dominguez, Manuela; Mannermaa, Arto; Olsson, Hakan; Teixeira, Manuel R.; Stone, Jennifer; Offit, Kenneth; Ottini, Laura; Park, Sue K.; Thomassen, Mads; Hall, Per; Meindl, Alfons; Schmutzler, Rita K.; Droit, Arnaud; Bader, Gary D.; Pharoah, Paul D. P.; Couch, Fergus J.; Easton, Douglas F.; Kraft, Peter; Chenevix-Trench, Georgia; Garcia-Closas, Montserrat; Schmidt, Marjanka K.; Antoniou, Antonis C.; Simard, Jacques 分享 收藏
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