Browsing Research Articles (Genetics) by Subject "Variants"

Browsing Research Articles (Genetics) by Subject "Variants"

Sort by: Order: Results:

  • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 
    Dunning, Alison M.; Michailidou, Kyriaki; Kuchenbaecker, Karoline B.; Thompson, Deborah; French, Juliet D.; Beesley, Jonathan; Healey, Catherine S.; Kar, Siddhartha; Pooley, Karen A.; Lopez-Knowles, Elena; Dicks, Ed; Barrowdale, Daniel; Sinnott-Armstrong, Nicholas A.; Sallari, Richard C.; Hillman, Kristine M.; Kaufmann, Susanne; Sivakumaran, Haran; Marjaneh, Mahdi Moradi; Lee, Jason S.; Hills, Margaret; Jarosz, Monika; Drury, Suzie; Canisius, Sander; Bolla, Manjeet K.; Dennis, Joe; Wang, Qin; Hopper, John L.; Southey, Melissa C.; Broeks, Annegien; Schmidt, Marjanka K.; Lophatananon, Artitaya; Muir, Kenneth; Beckmann, Matthias W.; Fasching, Peter A.; Dos-Santos-Silva, Isabel; Peto, Julian; Sawyer, Elinor J.; Tomlinson, Ian; Burwinkel, Barbara; Marme, Frederik; Guenel, Pascal; Truong, Therese; Bojesen, Stig E.; Flyger, Henrik; Gonzalez-Neira, Anna; Perez, Jose I.A.; Anton-Culver, Hoda; Eunjung, Lee; Arndt, Volker; Brenner, Hermann; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hamann; Ute Hiltrud; Aittomaki, Kristiina; Blomqvist, Carl; Ito, Hidemi; Matsuo, Keitaro; Bogdanova, Natasha; Dork, Thilo; Lindblom, Margolin; Sara Annika; Kosma, Veli-Matti; Mannermaa, Arto; Tseng, Chiu-chen; Wu, Anna H.; Lambrechts, Diether; Wildiers, Hans; Chang-Claude, Jenny; Rudolph, Anja; Peterlongo, Paolo; Radice, Paolo; Olson, Janet E.; Giles, Graham G.; Milne, Roger L.; Haiman, Christopher A.; Henderson, Brian E.; Goldberg, Mark S.; Teo, Soo H.; Yip, Cheng Har; Silje, Nord; Borresen-Dale, Anne-Lise; Kristensen, Vessela; Long, Jirong; Zheng, Wei; Pylkas, Katri; Winqvist, Robert; Andrulis, Irene L.; Devilee, Peter; Seynaeve, Caroline; Figueroa, Jonine; Sherman, Mark E.; Czene, Kamila; Darabi, Hatef; Hollestelle, Antoinette; Van den Ouweland, Ans M.W.; Humphreys, Keith; Gao, Yu-Tang; Shu, Xiao-Ou; Cox, Angela; Cross, Simon S.; Blot, William; Cai, Qiuyin; Ghoussaini, Maya; Perkins, Babara J.; Shah, Mitul; Choi, Ji-Yeob; Kang, Daehee; Lee, Soo Chin; Hartman, Mikael; Kabisch, Maria; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Brennan, Paul; Sangrajrang, Suleeporn; Ambrosone, Christine B.; Toland, Amanda Ewart; Shen, Chen-Yang; Wu, Pei-Ei; Orr, Nick; Swerdlow, Anthony; McGuffog, Lesley; Healey, Sue; Lee, Andrew; Kapuscinski, Miroslav; John, Esther M.; Terry, Mary Beth; Daly, Mary B.; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia Maria; Janse van Rensburg, E.S. (Elsie); Neuhausen, Susan L.; Ejlertsen, Bent; Hansen, Thomas V.O.; Osorio, Ana; Benitez, Javier; Rando, Rachel; Weitzel, Jeffrey N.; Bonanni, Bernardo; Peissel, Bernard; Manoukian, Siranoush; Papi, Laura; Ottini, Laura; Konstantopoulou, Irene; Apostolou, Paraskevi; Garber, Judy; Frost, Debra; Rashid, Muhammad Usman; EMBRACE; Izatt, Louise; Ellis, Steve; Godwin, Andrew K.; Arnold, Norbert; Niederacher, Dieter; Rhiem, Kerstin; Bogdanova-Markov, Nadja; Sagne, Charlotte; Stoppa-Lyonnet, Dominique; Damiola, Francesca; GEMO Study Collaborators; Sinilnikova, Olga M.; Mazoyer, Sylvie; Isaacs, Claudine; Claes, Kathleen B.M.; De Leeneer, Kim; De la Hoya, Miguel; Caldes, Trinidad; Nevanlinna, Heli; Khan, Sofia; Mensenkamp, Arjen R.; HEBON; Hooning, Maartje J.; Rookus, Matti A.; Kwong, Ava; Olah, Edith; Diez, Orland; Brunet, Joan; Pujana, Miquel Angel; Gronwald, Jacek; Huzarski, Tomasz; Barkardottir, Rosa B.; Laframboise, Rachel; Soucy, Penny; Montagna, Marco; Agata, Simona; Teixeira, Manuel R.; kConFab Investigators; Park, Sue Kyung; Lindor, Noralane; Couch, Fergus J.; Tischkowitz, Marc; Foretova, Lenka; Vijai, Joseph; Offit, Kenneth; Singer, Christian F.; Rappaport, Christine; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Imyanitov, Evgeny N.; Hulick, Peter J.; Phillips, Kelly-Anne; Piedmonte, Marion; Mulligan, Anna Marie; Glendon, Gord; Bojesen, Anders; Thomassen, Mads; Caligo, Maria A.; Yoon, Sook-Yee; Friedman, Eitan; Laitman, Yael; Borg, Ake; Von Wachenfeldt, Anna; Ehrencrona, Hans; Rantala, Johanna; Olopade, Olufunmilayo I.; Ganz, Patricia A.; Nussbaum, Robert L.; Gayther, Simon A.; Nathanson, Katherine L.; Domchek, Susan M.; Arun, Banu K.; Mitchell, Gillian; Karlan, Beth Y.; Lester, Jenny; Maskarinec, Gertraud; Woolcott, Christy; Scott, Christopher; Haakensen, Vilde; Dowsett, Mitch; Pharoah, Paul D.P.; Simard, Jacques; Hall, Per; García-Closas, Montserrat; Vachon, Celine; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Easton, Douglas F.; Edwards, Stacey L. (Nature Publishing Group, 2016-04)
    We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ...
  • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers 
    Hakkaart, Christopher; Pearson, John F.; Marquart, Louise; Dennis, Joe; Wiggins, George A.R.; Barnes, Daniel R.; Robinson, Bridget A.; Mace, Peter D.; Aittomaki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Belhadj, Sami; Berger, Lieke; Blok, Marinus J.; Boonen, Susanne E.; Borde, Julika; Bradbury, Angela R.; Brunet, Joan; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Chung, Wendy K.; Claes, Kathleen B.M.; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame, Marie-Agnes; Cook, Jackie; Cosgrove, Casey; Couch, Fergus J.; Daly, Mary B.; Dandiker, Sita; Davidson, Rosemarie; De la Hoya, Miguel; De Putter, Robin; Delnatte, Capucine; Dhawan, Mallika; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Easton, Douglas F.; Ehrencrona, Hans; Engel, Christoph; Evans, D. Gareth; Faust, Ulrike; Feliubadalo, Lidia; Fostira, Florentia; Friedman, Eitan; Frone, Megan; Frost, Debra; Garber, Judy; Gayther, Simon A.; Gehrig, Andrea; Gesta, Paul; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hansen, Thomas V.O.; Hauke, Jan; Hentschel, Julia; Herold, Natalie; Honisch, Ellen; Hulick, Peter J.; Imyanitov, Evgeny N.; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kemp, Zoe; Kirk, Judy; Konstantopoulou, Irene; Koudijs, Marco; Kwong, Ava; Laitman, Yael; Lalloo, Fiona; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martens, John W.M.; McGuffog, Lesley; Mebirouk, Noura; Meindl, Alfons; Miller, Austin; Montagna, Marco; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Nambot, Sophie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yuen Yie, Joanne Ngeow; Nguyen-Dumont, Tu; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Osorio, Ana; Ott, Claus-Eric; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Pocza, Timea; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rodriguez, Gustavo C.; Ronlund, Karina; Rosenberg, Efraim H.; Rossing, Maria; Schmutzler, Rita K.; Shah, Payal D.; Sharif, Saba; Sharma, Priyanka; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Snape, Katie; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Trainer, Alison H.; Tripathi, Vishakha; Tung, Nadine; Van Engelen, Klaartje; Jansen van Rensburg, Elizabeth; Vega, Ana; Viel, Alessandra; Weitzel, Jeffrey N.; Wevers, Marike R.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Antoniou, Antonis C. (Springer Nature, 2022-10-06)
    The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of ...
  • A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk 
    Lu, Yingchang; Beeghly-Fadiel, Alicia; Wu, Lang; Guo, Xingyi; Li, Bingshan; Schildkraut, Joellen M.; Im, HaeKyung; Chen, Yian A.; Permuth, Jennifer B.; Reid, Brett M.; Teer, Jamie K.; Moysich, Kirsten B.; Andrulis, Irene L.; Anton-Culver, Hoda; Arun, Banu K.; Bandera, Elisa V.; Barkardottir, Rosa B.; Barnes, Daniel R.; Benitez, Javier; Bjorge, Line; Brenton, James; Butzow, Ralf; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Chang-Claude, Jenny; Claes, Kathleen B.M.; Couch, Fergus J.; Cramer, Daniel W.; Daly, Mary B.; DeFazio, Anna; Dennis, Joe; Diez, Orland; Domchek, Susan M.; Dörk, Thilo; Easton, Douglas F.; Eccles, Diana M.; Fasching, Peter A.; Fortner, Renée T.; Fountzilas, George; Friedman, Eitan; Ganz, Patricia A.; Garber Judy; Giles, Graham G.; Godwin, Andrew K.; Goldgar, David E.; Goodman, Marc T.; Greene, Mark H.; Gronwald, Jacek; Hamann, Ute; Heitz, Florian; Hildebrandt, Michelle A.T.; Høgdall, Claus K.; Hollestelle, Antoinette; Hulick, Peter J.; Huntsman, David G.; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakubowska, Anna; James, Paul; Karlan, Beth Y.; Kelemen, Linda E.; Kiemeney, Lambertus A.; Kjaer, Susanne K.; Kwong, Ava; Le, Nhu D.; Leslie, Goska; Lesueur, Fabienne; Levine, Douglas A.; Mattiello, Amalia; May, Taymaa; McGuffog, Lesley; McNeish, Iain A.; Merritt, Melissa A.; Modugno, Francesmary; Montagna, Marco; Neuhausen, Susan L.; Nevanlinna, Heli; Nielsen, Finn C.; Nikitina-Zake, Liene; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Sara H.; Olsson, Håkan K.; Osorio, Ana; Park, Sue K.; Parsons, Michael T.; Peeters, Petra H.M.; Pejovic, Tanja; Peterlongo, Paolo; Phelan, Catherine M.; Pujana, Miquel Angel; Ramus, Susan J.; Rennert, Gad; Risch, Harvey; Rodriguez, Gustavo C.; Rodríguez-Antona, Cristina; Romieu, Isabelle; Rookus, Matti A.; Rossing, Mary Anne; Rzepecka, Iwona K.; Sandler, Dale P.; Schmutzler, Rita K.; Setiawan, Veronica W.; Sharma, Priyanka; Sieh, Weiva; Simard, Jacques; Singer, Christian F.; Song, Honglin; Southey, Melissa C.; Spurdle, Amanada B.; Sutphen, Rebecca; Swerdlow, Anthony J.; Teixeira, Manuel R.; Teo, Soo H.; Thomassen, Mads; Tischkowitz, Marc; Toland, Amanda E.; Trichopoulou, Antonia; Tung, Nadine; Tworoger, Shelley S.; Jansen van Rensburg, Elizabeth; Vanderstichele, Adriaan; Vega, Ana; Edwards, Digna Velez; Webb, Penelope M.; Weitzel, Jeffrey N.; Wentzensen, Nicolas; White, Emily; Wolk, Alicja; Wu, Anna H.; Yannoukakos, Drakoulis; Zorn, Kristin K.; Gayther, Simon A.; Antoniou, Antonis C.; Berchuck, Andrew; Goode, Ellen L.; Chenevix-Trench, Georgia; Sellers, Thomas A.; Pharoah, Paul D.P.; Zheng, Wei; Long, Jirong (American Association for Cancer Research, 2018-09)
    Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in ...