Citations 6
ENIGMA CHEK2 gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolařová, Lenka , Kleiblová, Petra , Šťastná, Barbora , Janatová, Markéta , Soukupová, Jana , Achatz, Maria Isabel , Ambrosone, Christine B. , Apostolou, Paraskevi , Arun, Banu , Auer, Paul L. , Bertelsen, Birgitte , Japan, Biobank, Kamatani, Yoichiro, Morisaki, Takayuki , Nagai, Akiko , Muto, Kaori , Murakami, Yoshinori , Furukawa, Yoichi , Yamanashi, Yuji , Nakamura, Yusuke , Momozawa, Yukihide , Ohnishi, Yozo, Kubo, Michiaki , Higashiue, Shinichi , Kobayashi, Shuzo , Minami, Shiro, Yamaguhci, Hiroki, Arai, Hajime , Yamaji, Ken , Asai, Satoshi , Fujioka, Tomoaki, Obara, Wataru , Mori, Seijiro, Murayama, Shigeo , Miki, Yoshio , Masumoto, Akihide, Yamada, Akira , Nishizawa, Yasuko, Higashiyama, Masahiko, Kutsumi, Hiromu, Koretsune, Yukihiro , Blok, Marinus J. , Brunet, Joan , Calvello, Mariarosaria , Chen, Fei , Cortesi, Laura , Crujeiras-González, Ana , Černá, Marta , Hovhannisyan, Milena, Jelínková, Sandra , Nehasil, Petr , Macháčková, Eva , Krutilkova, Vera, Tavandzis, Spiros , Cerna, Leona, Chvojka, Štěpán, Koudová, Monika , Puchmajerová, Alena, Novotný, Jan , Veselá, Kamila , Hrušková, Lucie , Michalovska, Renata, Schwetzova, Denisa, Vlčková, Zdeňka, Černá, Monika, Hejnalová, Markéta, Jedlickova, Nikol, Šubrt, Ivan , Zavoral, Tomas, Kosařová, Marcela, Vacínová, Gabriela, Janíková, Mária , Kratochvílová, Romana , Curtisová, Václava , Vrtěl, Radek , Scheinost, Ondřej, Duskova, Petra, Putter, Robin De , Efremidis, Anna , Engel, Christoph , Evans, D. Gareth , Feliubadaló, Lídia , Fuentes-Ríos, Olivia , Gómez, E. , Haiman, Christopher A. , Hansen, Thomas van Overeem , Hodge, James M. , Huang, Hongyan , Ishak, Nur Diana Binte , Iwasaki, Yusuke , Konstantopoulou, Irene , Li, Na , Lindström, Sara , Lori, Adriana , Martinez, Elana, Martins, Alexandra , McInerny, Simone , Montagna, Marco , Mori, Luigi , Nathanson, Katherine L. , Patel, Alpa V. , Poppe, Bruce , Rosseel, Toon , Ruddy, Kathryn J. , Santos, Elizabeth Santana Dos , Vachon, Celine M. , Volk, Alexander E. , Weber‐Lassalle, Nana , Weitzel, Jeffrey N. , Yadav, Siddhartha , Zethoven, Magnus, Zhang, Ze Wen, Vega, Ana , Rossing, Maria , Valle, Jesús Del , Nicolo, Arcangela De , Hahnen, Eric , Ngeow, Joanne , Kleibl, Zdeněk , Chen, Chen , Zemankova, Petra , Stastna, Barbora , Janatova, Marketa , Soukupova, Jana , Achatz, M I , Ambrosone, Christine B , Apostolou, Paraskevi , Arun, Banu , Auer, Paul , Barnard, Mollie , Bertelsen, Birgitte , Blok, Marinus J , Boddicker, Nicholas J , Brunet, Joan , Burnside, Elizabeth S , Calvello, Mariarosaria , Campbell, Ian G , Chan, Sock Hoai , Chen, Fei , Chiang, Jian Bang , Coppa, Anna , Cortesi, Laura , Crujeiras-González, Ana , De Leeneer, Kim , de Putter, Robin , DePersia, Allison , Devereux, Lisa , Domchek, Susan M , Efremidis, Anna , Engel, Christoph , Ernst, Corinna , Evans, D Gareth , Feliubadaló, Lidia , Fostira, Florentia , Fuentes-Ríos, Olivia , Gómez-García, Encarna B , González, Sara , Haiman, Christopher A , Hansen, Thomas van Overeem , Hauke, Jan , Hodge, James M , Hu, Chunling , Huang, Hongyan , Ishak, Nur Diana Binte , Iwasaki, Yusuke , Konstantopoulou, Irene , Kraft, Peter , Lacey, James V. , Lazaro, Conxi , Li, Na , Lim, Weng Khong , Lindstrom, Sara , Lori, Adriana , Martı́nez, Marı́a Elena , Martins, Alexandra , Matsuda, Koichi , Matullo, Giuseppe , McInerny, Simone , Michailidou, Kyriaki , Montagna, Marco , Monteiro, Alvaro N , Mori, Luigi , Nathanson, Katherine L , Neuhausen, Susan L. , Nevanlinna, H , Olson, Janet E , Palmer, Julie R , Pasini, Barbara , Patel, Alpa V , Piane, Maria , Poppe, Bruce , Radice, Paolo , Renieri, Alessandra , Resta, Nicoletta , Richardson, Marcy E , Rosseel, Toon , Ruddy, Kathryn J , Santamariña, Marta , Dos Santos, Elizabeth Santana , Teras, Lauren R , Toland, Amanda Ewart , Trentham-Dietz, Amy , Vachon, Celine M. , Volk, Alexander E , Weber-Lassalle, Nana , Weitzel, Jeffrey N , Wiesmuller, Lisa , Winham, Stacey J , Yadav, Siddhartha , Yannoukakos, Drakoulis , Yao, Song , Zampiga, Valentina , Zethoven, Magnus , Zhang, Ze Wen , Zima, Tomas , Spurdle, Amanda B , Vega, Ana , Rossing, Maria , Del Valle, Jesús , De Nicolo, Arcangela , Hahnen, Eric , Claes, Kathleen B M , Ngeow, Joanne , Momozawa, Yukihide , James, Paul , Couch, Fergus J. , Macurek, Libor , Kleibl, Zdenek , Chen, C , Japan, Biobank, Kamatani, Yoichiro, Mushiroda, Taisei , Tanaka, Toshihiro , Yamaguhci, Hiroki, Okazaki, Yasushi , Takahashi, Yasuo , Nagayama, Satoshi , Yoshiyama, Takashi , Boddicker, Nicholas , Burnside, Elizabeth S. , Campbell, Ian , Borecká, Marianna , Foretová, Lenka , Havránek, Ondřej , Vočka, Michal , Michalovska, Renata, Schwetzova, Denisa, Jedlickova, Nikol, Zavoral, Tomáš, Duskova, Petra, Stránecký, Viktor , Leeneer, Kim De , Domchek, Susan M. , González, Sara , Hauke, Jan , Hu, Chunling , Kraft, Peter , Lázaro, Conxi , Matullo, Giuseppe , Michailidou, Kyriaki , Monteiro, Álvaro N.A. , Nevanlinna, Heli , Olson, Janet E. , Palmer, Julie R. , Pasini, Barbara , Radice, Paolo , Renieri, Alessandra , Santamariña, Marta , Teras, Lauren R. , Trentham‐Dietz, Amy , Wiesmüller, Lisa , Winham, Stacey J. , Yannoukakos, Drakoulis , Yao, Song , Zampiga, Valentina , Spurdle, Amanda B. , Claes, Kathleen , James, Paul A. , Couch, Fergus J.
Clinical Cancer Research | July 14, 2023 | Volume: 29 | Issue: 16 | Pages: 3037-3050
Abstract Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk in heterozygous carriers.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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Human Mutation | February 15, 2018 | Volume: 39 | Issue: 5 | Pages: 593-620
Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
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JAMA | April 7, 2015 | Volume: 313 | Issue: 13 | Pages: 1347
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C. , Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Peterlongo, Paolo , Manoukian, Siranoush , Peissel, Bernard , Zaffaroni, Daniela , Cattaneo, Elisa , Barile, Monica, Pensotti, Valeria , Pasini, Barbara , Dolcetti, Riccardo , Giannini, Giuseppe , Putignano, Anna Laura , Varesco, Liliana , Radice, Paolo , Mai, Phuong L., Greene, Mark H. , Andrulis, Irene L. , Glendon, Gord , Özçelik, Hilmi, Thomassen, Mads , Gerdes, Anne‐Marie , Kruse, Torben A., Jensen, Uffe Birk , Crüger, Dorthe Gylling, Caligo, Maria A. , Laitman, Yael , Milgrom, Roni, Friedman, Eitan , Loman, Niklas, Harbst, Katja , Lindblom, Annika , Arver, Brita, Ehrencrona, Hans , Melin, Beatrice , SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Jakubowska, Anna , Lubiński, Jan , Huzarski, Tomasz , Byrski, Tomasz , Cybulski, Cezary, Górski, Bohdan , Osório, Ana , Hamann, Ute, Hogervorst, Frans B.L., Rookus, Matti A. , Hooning, Maartje J. , Nelen, Marcel , Luijt, Rob B. van der , Os, Theo A.M. van, Meijers‐Heijboer, Hanne , Gómez, E. , HEBON, Peock, Susan, Cook, Margaret , Frost, Debra, Platte, Radka, Leyland, Jean, Evans, D. Gareth , Lalloo, Fiona, Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian , Davidson, Rosemarie, Eccles, Diana , Ong, Kai-Ren, Douglas, Fiona, Paterson, Joan, Miedzybrodzka, Zosia , EMBRACE, Buecher, Bruno , Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie , Barjhoux, Laure, Lasset, Christine , Leroux, Dominique, Faivre, Laurence, Bronner, Myriam , Prieur, Fabienne, Noguès, Catherine , Rouleau, Étienne , Coupier, Isabelle, Frénay, Marc, Collaborators, CEMO Study, Daly, Mary B., Terry, Mary Beth , John, Esther M. , Yassin, Yosuf, Miron, Alexander, Goldgar, David E., Registry, Breast Cancer Family, Singer, Christian F., Tea, Muy‐Kheng, Pfeiler, Georg , Dressler, Anne Catharina, Hansen, Thomas van Overeem , Jønson, Lars, Ejlertsen, Bent , Barkardóttir, Rósa B. , Kirchhoff, Tomas , Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C. , Small, Laurie, Boggess, John F., Blank, Stephanie V. , Basil, Jack, Montagna, Marco , Tognazzo, Silvia , Imyanitov, Evgeny , Janavičius, Ramūnas , Lázaro, Conxi , Blanco, Ignacio , Sucheston, Lara, Walsh, Christine , Oláh, Edith , Bozsik, Anikó , Teo, Soo‐Hwang , Seldon, Joyce, Beattie, Mary, Rensburg, Elizabeth J. van , Sluiter, Michelle D., Dı́ez, Orland , Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ruehl, I., Varon-Mateeva, Raymonda, Kast, Karin, Deißler, Helmut , Niederacher, Dieter , Arnold, Norbert , Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, Hoya, Miguel de la , Nevanlinna, Heli , Aittomäki, Kristiina, Dumont, Martine , Chiquette, Jocelyne , Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B. , investigators, kConFab, Ding, Yuan Chun , Fredericksen, Zachary, Simard, Jacques , Easton, Douglas F. , Chenevix‐Trench, Georgia , CIMBA, on behalf of, Sutter, Christian , Vasen, Hans F. A. , Durocher, Francine , Rahman, Nazneen , Karlsson, Per , Nordling, Margareta , Olsson, Håkan , Hoogerbrugge, Nicoline , Waisfisz, Quinten , Barton, David , Tobias, Edward S. , Jacobs, Chris , Ellis, Ian O. , Castro, Elena , Lucassen, Anneke , Gladieff, Laurence , Thorne, Heather , Stenmark‐Askmalm, Marie , Faivre, Laurence , Kartsonaki, Christiana , Lee, Andrew , Mai, Phuong L., Kaufman, Bella , Paluch–Shimon, Shani , SWE-BRCA, Domchek, Susan M. , Gronwald, Jacek , Cajal, Teresa Ramón y , Fostira, Florentia , Andrés, Raquel , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, Cook, Jackie A , Kennedy, Michael John , EMBRACE, Godwin, Andrew K. , Stoppa‐Lyonnet, Dominique , Pujol, Pascal , Collaborators, CEMO Study, Hopper, John L. , Buys, Saundra S. , Registry, Breast Cancer Family, Singer, Christian F. , Azodi, Masoud , Toland, Amanda Ewart , Agata, Simona , Pharoah, Paul D.P. , Karlan, Beth Y. , Meindl, Alfons , Caldes, Trinidad, Tischkowitz, Marc D. , Chen, Xiaoqing, investigators, kConFab, Neuhausen, Susan L. , Wang, Xianshu , Pankratz, V. Shane , Couch, Fergus J. , CIMBA, on behalf of, Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Teo, Soo H , van Rensburg, Elizabeth J , Eccles, Diana , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , van der Luijt, Rob B , Jakubowska, Anna , Nathanson, Katherine L , Bozsik, Aniko , Engel, Christoph , Lazaro, Conxi , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Huzarski, Tomasz , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Pasini, Barbara , Manoukian, Siranoush , Lubinski, Jan , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian
Human Molecular Genetics | May 19, 2011 | Volume: 20 | Issue: 16 | Pages: 3304-3321
Multiple Gastrointestinal Stromal and Other Tumors Caused by Platelet-Derived Growth Factor Receptor α Gene Mutations: A Case Associated with a Germline V561D Defect
Pasini, Barbara , Matyakhina, Ludmila, Bei, Thalia, Muchow, Michael , Boikos, Sosipatros A. , Ferrando, Barbara, Carney, J. Aidan, Stratakis, Constantine A. , Stratakis, Constantine A , Pasini, Barbara
The Journal of Clinical Endocrinology & Metabolism | June 14, 2007 | Volume: 92 | Issue: 9 | Pages: 3728-3732
Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors
Matyakhina, Ludmila, Bei, Thalia, McWhinney, Sarah R., Pasini, Barbara , Gunawan, Bastian, Stergiopoulos, Sotirios, Boikos, Sosipatros A. , Muchow, Michael , Dutra, Amalia, Pak, Evgenia, Campo, Elı́as , Cid, María C. , Gómez, Fulgencio , Gaillard, Rolf C., Assié, Guillaume , Füzesi, L., Baysal, Bora E. , Eng, Charis , Carney, J. Aidan, Stratakis, Constantine A. , Cameron, Silke , Campo, Elías , Stratakis, Constantine A , Eng, Charis , Pasini, Barbara
The Journal of Clinical Endocrinology & Metabolism | May 29, 2007 | Volume: 92 | Issue: 8 | Pages: 2938-2943