Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: POF1B: 986G>A; rs75398746
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: POF1B: R329Q; rs75398746
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: POF1B: 986G>A; R329Q; rs75398746
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: POF1B: 986G>A; Arg329Gln
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nature Genetics
Day, Felix R FR; Ruth, Katherine S KS; Thompson, Deborah J DJ; Lunetta, Kathryn L KL; Pervjakova, Natalia N; Chasman, Daniel I DI; Stolk, Lisette L; Finucane, Hilary K HK; Sulem, Patrick P; Bulik-Sullivan, Brendan B; Esko, Tõnu T; Johnson, Andrew D AD; Elks, Cathy E CE; Franceschini, Nora N; He, Chunyan C; Altmaier, Elisabeth E; Brody, Jennifer A JA; Franke, Lude L LL; Huffman, Jennifer E JE; Keller, Margaux F MF; McArdle, Patrick F PF; Nutile, Teresa T; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Smith, Jennifer A JA; Teumer, Alexander A; Traglia, Michela M; Vuckovic, Dragana D; Yao, Jie J; Zhao, Wei W; Albrecht, Eva E; Amin, Najaf N; Corre, Tanguy T; Hottenga, Jouke-Jan JJ; Mangino, Massimo M; Smith, Albert V AV; Tanaka, Toshiko T; Abecasis, Goncalo G; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antoniou, Antonis C AC; Arndt, Volker V; Arnold, Alice M AM; Barbieri, Caterina C; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bernstein, Leslie L; Bielinski, Suzette J SJ; Blomqvist, Carl C; Boerwinkle, Eric E; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Boutin, Thibaud S TS; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Campbell, Archie A; Campbell, Harry H; Chanock, Stephen J SJ; Chapman, J Ross JR; Chen, Yii-Der Ida YI; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Coviello, Andrea D AD; Cox, Angela A; Czene, Kamila K; Darabi, Hatef H; De Vivo, Immaculata I; Demerath, Ellen W EW; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Eicher, John D JD; Fasching, Peter A PA; Faul, Jessica D JD; Figueroa, Jonine J; Flesch-Janys, Dieter D; Gandin, Ilaria I; Garcia, Melissa E ME; García-Closas, Montserrat M; Giles, Graham G GG; Girotto, Giorgia G GG; Goldberg, Mark S MS; González-Neira, Anna A; Goodarzi, Mark O MO; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Guénel, Pascal P; Guo, Xiuqing X; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Henderson, Brian E BE; Hocking, Lynne J LJ; Hofman, Albert A; Homuth, Georg G; Hooning, Maartje J MJ; Hopper, John L JL; Hu, Frank B FB; Huang, Jinyan J; Humphreys, Keith K; Hunter, David J DJ; Jakubowska, Anna A; Jones, Samuel E SE; Kabisch, Maria M; Karasik, David D; Knight, Julia A JA; Kolcic, Ivana I; Kooperberg, Charles C; Kosma, Veli-Matti VM; Kriebel, Jennifer J; Kristensen, Vessela V; Lambrechts, Diether D; Langenberg, Claudia C; Li, Jingmei J; Li, Xin X; Lindström, Sara S; Liu, Yongmei Y; Luan, Jian'an J; Lubinski, Jan J; Mägi, Reedik R; Mannermaa, Arto A; Manz, Judith J; Margolin, Sara S; Marten, Jonathan J; Martin, Nicholas G NG; Masciullo, Corrado C; Meindl, Alfons A; Michailidou, Kyriaki K; Mihailov, Evelin E; Milani, Lili L; Milne, Roger L RL; Müller-Nurasyid, Martina M; Nalls, Michael M; Neale, Ben M BM; Nevanlinna, Heli H; Neven, Patrick P; Newman, Anne B AB; Nordestgaard, Børge G BG; Olson, Janet E JE; Padmanabhan, Sandosh S; Peterlongo, Paolo P; Peters, Ulrike U; Petersmann, Astrid A; Peto, Julian J; Pharoah, Paul D P PDP; Pirastu, Nicola N NN; Pirie, Ailith A; Pistis, Giorgio G; Polasek, Ozren O; Porteous, David D; Psaty, Bruce M BM; Pylkäs, Katri K; Radice, Paolo P; Raffel, Leslie J LJ; Rivadeneira, Fernando F; Rudan, Igor I; Rudolph, Anja A; Ruggiero, Daniela D; Sala, Cinzia F CF; Sanna, Serena S; Sawyer, Elinor J EJ; Schlessinger, David D; Schmidt, Marjanka K MK; Schmidt, Frank F; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Robert A RA; Seynaeve, Caroline M CM; Simard, Jacques J; Sorice, Rossella R; Southey, Melissa C MC; Stöckl, Doris D; Strauch, Konstantin K; Swerdlow, Anthony A; Taylor, Kent D KD; Thorsteinsdottir, Unnur U; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; Tryggvadottir, Laufey L; Turner, Stephen T ST; Vozzi, Diego D; Wang, Qin Q; Wellons, Melissa M; Willemsen, Gonneke G; Wilson, James F JF; Winqvist, Robert R; Wolffenbuttel, Bruce B H R BBHR; Wright, Alan F AF; Yannoukakos, Drakoulis D; Zemunik, Tatijana T; Zheng, Wei W; Zygmunt, Marek M; Bergmann, Sven S; Boomsma, Dorret I DI; Buring, Julie E JE; Ferrucci, Luigi L; Montgomery, Grant W GW; Gudnason, Vilmundur V; Spector, Tim D TD; van Duijn, Cornelia M CM; Alizadeh, Behrooz Z BZ; Ciullo, Marina M; Crisponi, Laura L; Easton, Douglas F DF; Gasparini, Paolo P PP; Gieger, Christian C; Harris, Tamara B TB; Hayward, Caroline C; Kardia, Sharon L R SLR; Kraft, Peter P; McKnight, Barbara B; Metspalu, Andres A; Morrison, Alanna C AC; Reiner, Alex P AP; Ridker, Paul M PM; Rotter, Jerome I JI; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Weir, David R DR; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; Price, Alkes L AL; Stefansson, Kari K; Visser, Jenny A JA; Ong, Ken K KK; Chang-Claude, Jenny J; Murabito, Joanne M JM; Perry, John R B JRB; Murray, Anna A
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: POF1B: R329Q; rs75398746
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Human Mutation
Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG
Publication Date: 2014-01
Variant appearance in text: POF1B: Arg329Gln; rs75398746
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: POF1B: 986G>A; R329Q; rs75398746