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

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模荟萃分析和精准功能分析确定了FANCM区域中PTV赋予ER阴性和三阴性乳腺癌不同风险的基因表达谱。

Billaud, Amandine; Figlioli, Gisella; Mooser, Clémence; Casamassima, Irene; Azzoni, Violette; Srivatsa, Jahnavi; Colombo, Mara; Caleca, Laura; Ahearn, Thomas U; Andrulis, Irene L; Antoniou, Antonis C; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Czene, Kamila; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Gabrielson, Marike; Gago-Dominguez, Manuela; González-Neira, Anna; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Kristensen, Vessela N; Lubiński, Jan; Lush, Michael; Manoukian, Siranoush; Mavroudis, Dimitrios; Milne, Roger L; Mulligan, Anna Marie; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Pita, Guillermo; Rashid, Muhammad U; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Southey, Melissa C; Spurdle, Amanda B; Tomlinson, Ian; Truong, Thérèse; Wang, Qin; Wendt, Camilla; Auer, Paul L; Boddicker, Nicholas J; Bodelon, Clara; Burnside, Elizabeth S; Chen, Fei; Couch, Fergus J; Domchek, Susan M; Eliassen, Heather A; Haiman, Christopher; Hodge, James M; Hu, Chunling; Huang, Hongyan; Lindstrom, Sara; Martinez, Maria Elena; Nathanson, Katherine L; Neuhausen, Susan L; O'Brien, Katie M; Olson, Janet E; Palmer, Julie R; Patel, Alpa V; Ruddy, Kathryn J; Sandler, Dale P; Teras, Lauren R; Weinberg, Clarice R; Weitzel, Jeffrey N; Winham, Stacey J; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary; Janatova, Marketa; Kleibl, Zdenek; Kleiblova, Petra; Soukupova, Jana; Zhao, Qihong; Devereux, Lisa; James, Paul A; Campbell, Ian G; Nguyen-Dumont, Tu; Dowty, James G; Andrieu, Nadine; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Hoya, Miguel de la; Radice, Paolo; Sørensen, Claus Storgaard; Peterlongo, Paolo

Immune gene diversity and STING1 variants in shaping cancer immunity across different genetic ancestry populations

免疫基因多样性和STING1变异体在不同遗传祖先人群中对癌症免疫的影响

Hu, Xiaowen; Huang, Jie; Yuan, Jiao; Sun, Yanrong; Wang, Yuxin; Hu, Zhongyi; Jiang, Junjie; Wang, Zhiling; Wang, Bingwei; Long, Meixiao; Maxwell, Kara N; Fan, Yi; Tanyi, Janos L; Montone, Kathleen T; Li, Hongzhe; Kim, Sarah H; Nathanson, Katherine L; Rebbeck, Timothy R; Domchek, Susan M; Vonderheide, Robert H; Zhang, Lin

High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response

对 6,888 个 RAD51D 变体进行高通量测序,鉴定出同源重组和奥拉帕尼反应所需的不同生化功能。

Darrah, Kristie E; Hemker, Shelby L; Rawal, Yashpal; Goff, Noah J; Parker, Phoebe; Ganesan, Gayatri; Stratton, Caleb M; Oppenheimer, Katherine; Roberts, Ella; Glick, Elena; Banks, Nicole; Kumar, Arjun; Casadei, Silvia; Snyder, Matthew W; Nathanson, Katherine; Domchek, Susan M; Starita, Lea M; Olsen, Shaun K; Sung, Patrick; Kitzman, Jacob O; Bernstein, Kara A

Sexual Function, Activity and Distress 24 Months After Surgical Menopause: What Happens After Menopause (WHAM)-A Prospective Controlled Study

手术绝经后24个月的性功能、性活动和性困扰:绝经后会发生什么(WHAM)——一项前瞻性对照研究

Hickey, Martha; Tejada-Berges, Trevor; Domchek, Susan M; Krejany, Efrosinia O; Brand, Alison; Li, Peixuan; Braat, Sabine; Kingsberg, Sheryl

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

Functional evaluation and clinical classification of BRCA2 variants

BRCA2变异体的功能评估和临床分类

Huaizhi Huang # ,Chunling Hu #,Jie Na,Steven N Hart,Rohan David Gnanaolivu,Mohamed Abozaid,Tara Rao,Yohannes A Tecleab  ; CARRIERS Consortium; Tina Pesaran,Paulo Cilas Morais Lyra,Rachid Karam,Siddhartha Yadav,Katherine L Nathanson,Susan M Domchek,Miguel de la Hoya,Mark Robson,Miika Mehine,Chaitanya Bandlamudi,Diana Mandelker,Alvaro N A Monteiro,Edwin S Iversen,Nicholas Boddicker,Wenan Chen,Marcy E Richardson,Fergus J Couch

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

Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women

致病变异、家族史和美国女性乳腺癌的累积风险

O'Brien, Katie M; Keil, Alexander P; Taylor, Jack A; Weinberg, Clarice R; Polley, Eric C; Yadav, Siddhartha; Boddicker, Nicholas J; Hu, Chunling; Ambrosone, Christine B; Anton-Culver, Hoda; Auer, Paul L; Bodelon, Clara; Brantley, Kristen; Burnside, Elizabeth S; Chen, Fei; Domchek, Susan M; Eliassen, A Heather; Haiman, Christopher A; Hodge, James M; Kraft, Peter; Lacey, James V; Lindstroem, Sara; Martinez, Maria Elena; Nathanson, Katherine L; Neuhausen, Susan L; Olson, Janet E; Palmer, Julie R; Patel, Alpa V; Penney, Kathryn L; Ruddy, Kathryn J; Scott, Christopher G; Teras, Lauren R; Trentham-Dietz, Amy; Vachon, Celine M; Weitzel, Jeffrey N; Yao, Song; Zirpoli, Gary; Couch, Fergus J; Sandler, Dale P

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