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

Proceedings of the 27(th) Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana) Lisbon, 23 -25 November 2023

葡萄牙人类遗传学学会 (SPGH – Sociedade Portuguesa de Genética Humana) 第 27 届年会论文集,里斯本,2023 年 11 月 23 日至 25 日

Phillips, Kelly-Anne; Kotsopoulos, Joanne; Domchek, Susan M; Terry, Mary Beth; Chamberlain, James A; Bassett, Julie K; Aeilts, Amber M; Andrulis, Irene L; Buys, Saundra S; Cui, Wanda; Daly, Mary B; Eisen, Andrea F; Foulkes, William D; Friedlander, Michael L; Gronwald, Jacek; Hopper, John L; John, Esther M; Karlan, Beth Y; Kim, Raymond H; Kurian, Allison W; Lubinski, Jan; Metcalfe, Kelly; Nathanson, Katherine L; Singer, Christian F; Southey, Melissa C; Symecko, Heather; Tung, Nadine; Narod, Steven A; Milne, Roger L

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

The incidence of pancreatic cancer in women with a BRCA1 or BRCA2 mutation

携带 BRCA1 或 BRCA2 突变的女性罹患胰腺癌的概率

Katona, Bryson W; Lubinski, Jan; Pal, Tuya; Huzarski, Tomasz; Foulkes, William D; Moller, Pal; Eisen, Andrea; Randall Armel, Susan; Neuhausen, Susan L; Raj, Rebecca; Aeilts, Amber; Singer, Christian F; Bordeleau, Louise; Karlan, Beth; Olopade, Olufunmilayo; Tung, Nadine; Zakalik, Dana; Kotsopoulos, Joanne; Fruscio, Robert; Eng, Charis; Sun, Ping; Narod, Steven A

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers

在出现多发性原发性结直肠癌的结直肠癌家族中寻找种系基因变异

Försti, Asta; Ambrozkiewicz, Filip; Marciniak, Magdalena; Lubinski, Jan; Hemminki, Kari

Familial colorectal cancer: search for novel predisposition genes

家族性结直肠癌:寻找新的易感基因

Försti, Asta; Miao, Beiping; Kumar, Abhishek; Dymerska Zaremba, Dagmara; Marciniak, Magdalena; Lubinski, Jan; Hemminki, Kari

The difference in contralateral breast cancer and ovarian cancer risks for BRCA1 founder variant (c.5266dup, c.4035del) carriers with primary breast cancer

BRCA1创始人变异(c.5266dup,c.4035del)携带者罹患原发性乳腺癌时,对侧乳腺癌和卵巢癌风险的差异

Loza, Peteris; Irmejs, Arvids; Daneberga, Zanda; Maksimenko, Jelena; Trofimovics, Genadijs; Subatniece, Signe; Gronwald, Jacek; Lubinski, Jan; Gardovskis, Janis

Treatment of infertility and risk of breast cancer among women with a BRCA pathogenic variant: a matched case-control study

BRCA致病变异女性不孕症治疗与乳腺癌风险:一项匹配病例对照研究

Seca, Marta; Gronwald, Jacek; Huzarski, Tomasz; Glass, Karen; Aeilts, Amber; Kim, Raymond H; Karlan, Beth; Singer, Christian F; Eisen, Andrea; Tung, Nadine; Olopade, Olufunmilayo; Bordeleau, Louise; Moller, Pal; Foulkes, William D; Neuhausen, Susan L; Couch, Fergus; Pal, Tuya; Fruscio, Robert; Cybulski, Cezary; Lubinski, Jan; Kim, Shana; Sun, Ping; Narod, Steven A; Kotsopoulos, Joanne

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

Telemedicine training among geriatric fellowship graduates: A needs assessment for future curriculum development

老年医学专科医师培训毕业生远程医疗培训:未来课程发展需求评估

Lubinski, Brooke; Leung, Erika; Dawson, Catherine M P; Whyman, Jeremy; Sullivan, Amy; Wershof Schwartz, Andrea

Effects of anticoagulation in patients with device-detected atrial fibrillation and multiple stroke risk factors: a win ratio analysis of the NOAH-AFNET 6 trial

抗凝治疗对经器械检测到房颤且存在多种卒中危险因素的患者的影响:NOAH-AFNET 6 试验的胜率分析

Becher, Nina; Köllner, Gina; Bertaglia, Emanuele; Blomstrom-Lundqvist, Carina; Brandes, Axel; Beuger, Vincent; Calvert, Melanie; Camm, A John; Cabanelas, Nuno; Chlouverakis, Gregory; Dan, Gheorghe-Andrei; Dichtl, Wolfgang; Diener, Hans Christoph; Fierenz, Alexander; Goette, Andreas; de Groot, Joris R; Kennes, Lieven Nils; Lip, Gregory Y H; Lubinski, Andrzej; Marijon, Eloi; Merkely, Béla; Mont, Lluís; Rajappan, Kim; Rohrer, Ursula; Sarkozy, Andrea; Schotten, Ulrich; Sehner, Susanne; Simantirakis, Emmanuel; Toennis, Tobias; Vardas, Panos; Velchev, Vasil; Wichterle, Dan; Zapf, Antonia; Kirchhof, Paulus