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

Evaluation of homologous recombination testing in ovarian carcinoma

卵巢癌同源重组检测的评价

Witjes, Vera M; de Hullu, Joanne A; van Remortele, Angela; Vreede, Lilian; Rosenberg, Efraim H; Cillessen, Saskia A G M; Groenendijk, Floris H; Steeghs, Elisabeth M P; Moonen, Laura; Mensenkamp, Arjen R; Ter Elst, Arja; de Leng, Wendy W J; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J 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

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.

揭示影响先天性错配修复缺陷个体肿瘤突变模式的诱变过程

Weijers Dilys D, Hinić Snežana, Kroeze Emma, Gorris Mark Aj, Schreibelt Gerty, Middelkamp Sjors, Mensenkamp Arjen R, Bladergroen Reno, Verrijp Kiek, Hoogerbrugge Nicoline, Wesseling Pieter, van der Post Rachel S, Loeffen Jan Lc, Gidding Corrie Em, van Kouwen Mariëtte Ca, de Vries I Jolanda M, van Boxtel Ruben, de Voer Richarda M, Jongmans Marjolijn Cj, Kuiper Roland P

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes

基于外显子组的癌症易感基因检测可以为具有异质性肿瘤表型的个体提供基因诊断。

Hinić, Snežana; Mensenkamp, Arjen R; Schuurs-Hoeijmakers, Janneke H M; Brugnoletti, Fulvia; Vreede, Lilian; van Veen, Elke M; Mijzen, Barend; van der Post, Rachel S; Genuardi, Maurizio; Ligtenberg, Marjolijn J L; Hoogerbrugge, Nicoline; de Voer, Richarda M

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk

PTEN错构瘤肿瘤综合征中的非浆液性卵巢癌:风险增加的更多证据。

Schei-Andersen, Ane J; Witjes, Vera M; Vos, Janet R; Mensenkamp, Arjen R; van Altena, Anne; Schieving, Jolanda; Simons, Michiel; Schuurs-Hoeijmakers, Janneke H M; Hoogerbrugge, Nicoline

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study

PTEN错构瘤肿瘤综合征(PHTS)患者的癌症预后和治疗结果——一项欧洲队列研究

Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; de Putter, Robin; Brems, Hilde; Van Daele, Sien H; Anastasiadou, Violetta C; Foretová, Lenka; Benusiglio, Patrick R; Gerasimenko, Anna; Colas, Chrystelle; Villy, Marie-Charlotte; Houdayer, Claude; Branchaud, Maud; Hüneburg, Robert; Aretz, Stefan; Jahn, Arne; Steinke-Lange, Verena; Innella, Giovanni; Turchetti, Daniela; Barili, Valeria; Genuardi, Maurizio; Panfili, Arianna; Baldassarri, Margherita; Irmejs, Arvīds; de Jong, Mirjam M; Links, Thera P; Leter, Edward M; Bosch, Daniëlle G M; Donze, Stephany H; van der Post, Rachel S; Mensenkamp, Arjen R; Westdorp, Harm; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Jørgensen, Kjersti; Mæhle, Lovise; Briskemyr, Siri; Garcia, Juliette Dupont; Blatnik, Ana; Balmaña, Judith; Torres, Maite; Brunet, Joan; Lleuger-Pujol, Roser; Tham, Emma; Tischkowitz, Marc; Evans, D Gareth; Hyder, Zerin; Hoogerbrugge, Nicoline; Vos, Janet R

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients

对PTEN错构瘤肿瘤综合征患者病理确诊的良性病变进行深度表型分析

Schei-Andersen, Ane J; Schuurs-Hoeijmakers, Janneke H M; van der Post, Rachel; Mensenkamp, Arjen R; Schieving, Jolanda; Vos, Janet R; Hoogerbrugge, Nicoline

Germline variant affecting p53β isoforms predisposes to familial cancer

影响 p53β 亚型的生殖细胞变异会导致家族性癌症

Stephanie A Schubert, Dina Ruano, Sebastien M Joruiz, Jordy Stroosma, Nikolina Glavak, Anna Montali, Lia M Pinto, Mar Rodríguez-Girondo, Daniela Q C M Barge-Schaapveld, Maartje Nielsen, Bernadette P M van Nesselrooij, Arjen R Mensenkamp, Monique E van Leerdam, Thomas H Sharp, Hans Morreau, Jean-Chri

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

乳腺癌易感基因中种系致病变异的共观察:BRIDGES测序数据集分析结果

Davidson, Aimee L; Michailidou, Kyriaki; Parsons, Michael T; Fortuno, Cristina; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Naven, Marc; Abubakar, Mustapha; Ahearn, Thomas U; Alonso, M Rosario; Andrulis, Irene L; Antoniou, Antonis C; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina A; Bogdanova, Natalia V; Bojesen, Stig E; Brüning, Thomas; Byers, Helen J; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Collée, J Margriet; Czene, Kamila; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; González-Neira, Anna; Grassmann, Felix; Gronwald, Jacek; Guénel, Pascal; Hadjisavvas, Andreas; Haeberle, Lothar; Hall, Per; Hamann, Ute; Hartman, Mikael; Ho, Peh Joo; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Khusnutdinova, Elza K; Kristensen, Vessela N; Li, Jingmei; Lim, Joanna; Lindblom, Annika; Liu, Jenny; Lophatananon, Artitaya; Mannermaa, Arto; Mavroudis, Dimitrios A; Mensenkamp, Arjen R; Milne, Roger L; Muir, Kenneth R; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Park, Sue K; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Radice, Paolo; Rashid, Muhammad U; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmidt, Marjanka K; Seibold, Petra; Shah, Mitul; Southey, Melissa C; Teo, Soo Hwang; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van de Beek, Irma; van der Hout, Annemieke H; Wendt, Camilla C; Dunning, Alison M; Pharoah, Paul D P; Devilee, Peter; Easton, Douglas F; James, Paul A; Spurdle, Amanda B

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B