Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17
Variant appearance in text: POLB: 725C>G; Pro242Arg
A highly annotated database of genes associated with platinum resistance in cancer.
Oncogene
Huang, Dongqing D; Savage, Sara R SR; Calinawan, Anna P AP; Lin, Chenwei C; Zhang, Bing B; Wang, Pei P; Starr, Timothy K TK; Birrer, Michael J MJ; Paulovich, Amanda G AG
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: POLB: P242R; rs3136797
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12
Variant appearance in text: POLB: 725C>G; P242R; rs3136797
Stability and sub-cellular localization of DNA polymerase β is regulated by interactions with NQO1 and XRCC1 in response to oxidative stress.
Nucleic Acids Research
Fang, Qingming Q; Andrews, Joel J; Sharma, Nidhi N; Wilk, Anna A; Clark, Jennifer J; Slyskova, Jana J; Koczor, Christopher A CA; Lans, Hannes H; Prakash, Aishwarya A; Sobol, Robert W RW
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: POLB: P242R; rs3136797
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
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: POLB: P242R; rs3136797
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Oncogene
Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN
Publication Date: 2019-03
Variant appearance in text: POLB: 725C>G; Pro242Arg; rs3136797
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: POLB: P242R; rs3136797
Rare and low-frequency coding variants alter human adult height.
Nature
Marouli, Eirini E; Graff, Mariaelisa M; Medina-Gomez, Carolina C; Lo, Ken Sin KS; Wood, Andrew R AR; Kjaer, Troels R TR; Fine, Rebecca S RS; Lu, Yingchang Y; Schurmann, Claudia C; Highland, Heather M HM; Rüeger, Sina S; Thorleifsson, Gudmar G; Justice, Anne E AE; Lamparter, David D; Stirrups, Kathleen E KE; Turcot, Valérie V; Young, Kristin L KL; Winkler, Thomas W TW; Esko, Tõnu T; Karaderi, Tugce T; Locke, Adam E AE; Masca, Nicholas G D NG; Ng, Maggie C Y MC; Mudgal, Poorva P; Rivas, Manuel A MA; Vedantam, Sailaja S; Mahajan, Anubha A; Guo, Xiuqing X; Abecasis, Goncalo G; Aben, Katja K KK; Adair, Linda S LS; Alam, Dewan S DS; Albrecht, Eva E; Allin, Kristine H KH; Allison, Matthew M; Amouyel, Philippe P; Appel, Emil V EV; Arveiler, Dominique D; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Banas, Bernhard B; Bang, Lia E LE; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Carey, David J DJ; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Galbany, Jordi Corominas JC; Cox, Amanda J AJ; Cuellar-Partida, Gabriel G; Danesh, John J; Davies, Gail G; de Bakker, Paul I W PI; de Borst, Gert J GJ; de Denus, Simon S; de Groot, Mark C H MC; de Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; den Hollander, Anneke I AI; Dennis, Joe G JG; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dunning, Alison M AM; Easton, Douglas F DF; Ebeling, Tapani T; Edwards, Todd L TL; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Faul, Jessica D JD; Feitosa, Mary F MF; Feng, Shuang S; Ferrannini, Ele E; Ferrario, Marco M MM; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Giri, Ayush A; Girotto, Giorgia G; Gordon, Scott D SD; Gordon-Larsen, Penny P; Gorski, Mathias M; Grarup, Niels N; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; He, Liang L; Heid, Iris M IM; Heikkilä, Kauko K; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Hocking, Lynne J LJ; Hollensted, Mette M; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JM; Hoyng, Carel B CB; Huang, Paul L PL; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jhun, Min A MA; Jia, Yucheng Y; Jiang, Xuejuan X; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jousilahti, Pekka P; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SL; Karpe, Fredrik F; Kee, Frank F; Keeman, Renske R; Kiemeney, Lambertus A LA; Kitajima, Hidetoshi H; Kluivers, Kirsten B KB; Kocher, Thomas T; Komulainen, Pirjo P; Kontto, Jukka J; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kriebel, Jennifer J; Kuivaniemi, Helena H; Küry, Sébastien S; Kuusisto, Johanna J; La Bianca, Martina M; Laakso, Markku M; Lakka, Timo A TA; Lange, Ethan M EM; Lange, Leslie A LA; Langefeld, Carl D CD; Langenberg, Claudia C; Larson, Eric B EB; Lee, I-Te IT; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Yeheng Y; Liu, Yongmei Y; Lophatananon, Artitaya A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Mackey, David A DA; Madden, Pamela A F PA; Manning, Alisa K AK; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Martin, Nicholas G NG; Mazul, Angela L AL; Meidtner, Karina K; Metspalu, Andres A; Mitchell, Paul P; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Nauck, Matthias M; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Ntalla, Ioanna I; O'Connel, Jeffrey R JR; Oksa, Heikki H; Loohuis, Loes M Olde LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CN; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JR; Person, Thomas N TN; Pirie, Ailith A; Polasek, Ozren O; Posthuma, Danielle D; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil N; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sandow, Kevin K; Sapkota, Yadav Y; Sattar, Naveed N; Schmidt, Marjanka K MK; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati S; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert Vernon AV; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Stumvoll, Michael M; Surendran, Praveen P; 't Hart, Leen M LM; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Ulivi, Sheila S; van der Laan, Sander W SW; Van Der Leij, Andries R AR; van Duijn, Cornelia M CM; van Schoor, Natasja M NM; van Setten, Jessica J; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Edwards, Digna R Velez DR; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vozzi, Diego D; Walker, Mark M; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Wareham, Nicholas J NJ; Warren, Helen R HR; Wessel, Jennifer J; Willems, Sara M SM; Wilson, James G JG; Witte, Daniel R DR; Woods, Michael O MO; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zheng, He H; Zhou, Wei W; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Boehnke, Michael M; Kathiresan, Sekar S; McCarthy, Mark I MI; Willer, Cristen J CJ; Stefansson, Kari K; Borecki, Ingrid B IB; Liu, Dajiang J DJ; North, Kari E KE; Heard-Costa, Nancy L NL; Pers, Tune H TH; Lindgren, Cecilia M CM; Oxvig, Claus C; Kutalik, Zoltán Z; Rivadeneira, Fernando F; Loos, Ruth J F RJ; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Deloukas, Panos P; Lettre, Guillaume G
DNA Polymerase Beta Germline Variant Confers Cellular Response to Cisplatin Therapy.
Molecular Cancer Research : Mcr
Nemec, Antonia A AA; Abriola, Laura L; Merkel, Jane S JS; de Stanchina, Elisa E; DeVeaux, Michelle M; Zelterman, Daniel D; Glazer, Peter M PM; Sweasy, Joann B JB
Publication Date: 2017-03
Variant appearance in text: POLB: P242R; rs3136797
Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population.
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: POLB: P242R; rs3136797
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: POLB: P242R; rs3136797
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: POLB: P242R; rs3136797
DNA polymerase β deficiency is linked to aggressive breast cancer: a comprehensive analysis of gene copy number, mRNA and protein expression in multiple cohorts.
Molecular Oncology
Abdel-Fatah, Tarek M A TM; Russell, Roslin R; Agarwal, Devika D; Moseley, Paul P; Abayomi, Michael Ayotunde MA; Perry, Christina C; Albarakati, Nada N; Ball, Graham G; Chan, Stephen S; Caldas, Carlos C; Ellis, Ian O IO; Madhusudan, Srinivasan S
DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.
International Journal Of Molecular Epidemiology And Genetics
Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C