Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers.
Journal Of Clinical Medicine
Esposito, Andrea A; Stucchi, Erika E; Baronchelli, Maria M; Di Mauro, Pierluigi P; Ferrari, Marco M; Lorini, Luigi L; Gurizzan, Cristina C; London, Nyall Robert Jr NRJ; Hermsen, Mario M; Lechner, Matt M; Bossi, Paolo P
EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.
Journal Of Extracellular Vesicles
Tsering, Thupten T; Li, Mingyang M; Chen, Yunxi Y; Nadeau, Amélie A; Laskaris, Alexander A; Abdouh, Mohamed M; Bustamante, Prisca P; Burnier, Julia V JV
Culture media composition influences patient-derived organoids ability to predict therapeutic response in gastrointestinal cancers.
Jci Insight
Hogenson, Tara L TL; Xie, Hao H; Phillips, William J WJ; Toruner, Merih D MD; Li, Jenny J JJ; Horn, Isaac P IP; Kennedy, Devin J DJ; Almada, Luciana L LL; Marks, David L DL; Carr, Ryan M RM; Toruner, Murat M; Sigafoos, Ashley N AN; Koenig-Kappes, Amanda N AN; Olson, Rachel Lo RL; Tolosa, Ezequiel J EJ; Zhang, Cheng C; Li, Hu H; Doles, Jason D JD; Bleeker, Jonathan J; Barrett, Michael T MT; Boyum, James H JH; Kipp, Benjamin R BR; Mahipal, Amit A; Hubbard, Joleen M JM; Scheffler Hanson, Temperance J TJ; Petersen, Gloria M GM; Dasari, Surendra S; Oberg, Ann L AL; Truty, Mark J MJ; Graham, Rondell P RP; Levy, Michael J MJ; Zhu, Mojun M; Billadeau, Daniel D DD; Adjei, Alex A AA; Dusetti, Nelson N; Iovanna, Juan L JL; Bekaii-Saab, Tanios S TS; Ma, Wen Wee WW; Fernandez-Zapico, Martin E ME
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14
Variant appearance in text: ATM: P1054R; rs1800057
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.
Journal Of The Endocrine Society
Miasaki, Fabíola Y FY; Saito, Kelly C KC; Yamamoto, Guilherme L GL; Boguszewski, César L CL; de Carvalho, Gisah A GA; Kimura, Edna T ET; Kopp, Peter A PA
Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.
Cancers
Waldenmaier, Mareike M; Schulte, Lucas L; Schönfelder, Jonathan J; Fürstberger, Axel A; Kraus, Johann M JM; Daiss, Nora N; Seibold, Tanja T; Morawe, Mareen M; Ettrich, Thomas J TJ; Kestler, Hans A HA; Kahlert, Christoph C; Seufferlein, Thomas T; Eiseler, Tim T
Mouse-INtraDuctal (MIND): an in vivo model for studying the underlying mechanisms of DCIS malignancy.
The Journal Of Pathology
Hong, Yan Y; Limback, Darlene D; Elsarraj, Hanan S HS; Harper, Haleigh H; Haines, Haley H; Hansford, Hayley H; Ricci, Michael M; Kaufman, Carolyn C; Wedlock, Emily E; Xu, Mingchu M; Zhang, Jianhua J; May, Lisa L; Cusick, Therese T; Inciardi, Marc M; Redick, Mark M; Gatewood, Jason J; Winblad, Onalisa O; Aripoli, Allison A; Huppe, Ashley A; Balanoff, Christa C; Wagner, Jamie L JL; Amin, Amanda L AL; Larson, Kelsey E KE; Ricci, Lawrence L; Tawfik, Ossama O; Razek, Hana H; Meierotto, Ruby O RO; Madan, Rashna R; Godwin, Andrew K AK; Thompson, Jeffrey J; Hilsenbeck, Susan G SG; Futreal, Andy A; Thompson, Alastair A; Hwang, E Shelley ES; Fan, Fang F; Behbod, Fariba F; ,
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: ATM: 3161C>G; P1054R; rs1800057
Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention.
International Journal Of Molecular Sciences
Vietri, Maria Teresa MT; D'Elia, Giovanna G; Caliendo, Gemma G; Resse, Marianna M; Casamassimi, Amelia A; Passariello, Luana L; Albanese, Luisa L; Cioffi, Michele M; Molinari, Anna Maria AM
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021
Variant appearance in text: ATM: 3161C>G; Pro1054Arg
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: ATM: 3161C>G; Pro1054Arg; rs1800057
Rare deleterious germline variants and risk of lung cancer.
Npj Precision Oncology
Liu, Yanhong Y; Xia, Jun J; McKay, James J; Tsavachidis, Spiridon S; Xiao, Xiangjun X; Spitz, Margaret R MR; Cheng, Chao C; Byun, Jinyoung J; Hong, Wei W; Li, Yafang Y; Zhu, Dakai D; Song, Zhuoyi Z; Rosenberg, Susan M SM; Scheurer, Michael E ME; Kheradmand, Farrah F; Pikielny, Claudio W CW; Lusk, Christine M CM; Schwartz, Ann G AG; Wistuba, Ignacio I II; Cho, Michael H MH; Silverman, Edwin K EK; Bailey-Wilson, Joan J; Pinney, Susan M SM; Anderson, Marshall M; Kupert, Elena E; Gaba, Colette C; Mandal, Diptasri D; You, Ming M; de Andrade, Mariza M; Yang, Ping P; Liloglou, Triantafillos T; Davies, Michael P A MPA; Lissowska, Jolanta J; Swiatkowska, Beata B; Zaridze, David D; Mukeria, Anush A; Janout, Vladimir V; Holcatova, Ivana I; Mates, Dana D; Stojsic, Jelena J; Scelo, Ghislaine G; Brennan, Paul P; Liu, Geoffrey G; Field, John K JK; Hung, Rayjean J RJ; Christiani, David C DC; Amos, Christopher I CI
The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.
British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03
Variant appearance in text: ATM: 3161C>G; Pro1054Arg; rs1800057
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: ATM: 3161C>G; P1054R; rs1800057
Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.
Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness.
Bmc Urology
Eckel-Passow, Jeanette E JE; Yan, Huihuang H; Kosel, Matthew L ML; Serie, Daniel D; Decker, Paul A PA; Jenkins, Robert B RB; Costello, Brian B; Leibovich, Bradley B; Ho, Thai H TH; Parker, Alexander A
Bao, Erik L EL; Nandakumar, Satish K SK; Liao, Xiaotian X; Bick, Alexander G AG; Karjalainen, Juha J; Tabaka, Marcin M; Gan, Olga I OI; Havulinna, Aki S AS; Kiiskinen, Tuomo T J TTJ; Lareau, Caleb A CA; de Lapuente Portilla, Aitzkoa L AL; Li, Bo B; Emdin, Connor C; Codd, Veryan V; Nelson, Christopher P CP; Walker, Christopher J CJ; Churchhouse, Claire C; de la Chapelle, Albert A; Klein, Daryl E DE; Nilsson, Björn B; Wilson, Peter W F PWF; Cho, Kelly K; Pyarajan, Saiju S; Gaziano, J Michael JM; Samani, Nilesh J NJ; , ; , ; Regev, Aviv A; Palotie, Aarno A; Neale, Benjamin M BM; Dick, John E JE; Natarajan, Pradeep P; O'Donnell, Christopher J CJ; Daly, Mark J MJ; Milyavsky, Michael M; Kathiresan, Sekar S; Sankaran, Vijay G VG
Publication Date: 2020-10
Variant appearance in text: ATM: P1054R; rs1800057
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Cancers
Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10
Variant appearance in text: ATM: 3161C>G; Pro1054Arg
A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS
Contralateral Prophylactic Mastectomy in Women with Unilateral Breast Cancer Who Are Genetic Carriers, Have a Strong Family History or Are just Young at Presentation.
Cancers
Teoh, Victoria V; Tasoulis, Marios-Konstantinos MK; Gui, Gerald G
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Nature Genetics
Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM
Publication Date: 2020-01
Variant appearance in text: ATM: P1054R; rs1800057
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: ATM: 3161C>G; P1054R; rs1800057
Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.
Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
Publication Date: 2019-11-19
Variant appearance in text: ATM: P1054R; rs1800057
Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.
Nature Communications
Gallagher, C S CS; Mäkinen, N N; Harris, H R HR; Rahmioglu, N N; Uimari, O O; Cook, J P JP; Shigesi, N N; Ferreira, T T; Velez-Edwards, D R DR; Edwards, T L TL; Mortlock, S S; Ruhioglu, Z Z; Day, F F; Becker, C M CM; Karhunen, V V; Martikainen, H H; Järvelin, M-R MR; Cantor, R M RM; Ridker, P M PM; Terry, K L KL; Buring, J E JE; Gordon, S D SD; Medland, S E SE; Montgomery, G W GW; Nyholt, D R DR; Hinds, D A DA; Tung, J Y JY; , ; Perry, J R B JRB; Lind, P A PA; Painter, J N JN; Martin, N G NG; Morris, A P AP; Chasman, D I DI; Missmer, S A SA; Zondervan, K T KT; Morton, C C CC
Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry.
Ebiomedicine
Yang, Yaohua Y; Shu, Xiang X; Shu, Xiao-Ou XO; Bolla, Manjeet K MK; Kweon, Sun-Seog SS; Cai, Qiuyin Q; Michailidou, Kyriaki K; Wang, Qin Q; Dennis, Joe J; Park, Boyoung B; Matsuo, Keitaro K; Kwong, Ava A; Park, Sue Kyung SK; Wu, Anna H AH; Teo, Soo Hwang SH; Iwasaki, Motoki M; Choi, Ji-Yeob JY; Li, Jingmei J; Hartman, Mikael M; Shen, Chen-Yang CY; Muir, Kenneth K; Lophatananon, Artitaya A; Li, Bingshan B; Wen, Wanqing W; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Aronson, Kristan J KJ; Spinell, John J JJ; Gago-Dominguez, Manuela M; John, Esther M EM; Kurian, Allison W AW; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Dörk, Thilo T; Evans, D Gareth R DGR; Schmidt, Marjanka K MK; Shin, Min-Ho MH; Giles, Graham G GG; Milne, Roger L RL; Simard, Jacques J; Kubo, Michiaki M; Kraft, Peter P; Kang, Daehee D; Easton, Douglas F DF; Zheng, Wei W; Long, Jirong J
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: ATM: P1054R; rs1800057
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Bmc Cancer
Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Cancers
Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A
Identification of Rare Variants Predisposing to Thyroid Cancer.
Thyroid : Official Journal Of The American Thyroid Association
Wang, Yanqiang Y; Liyanarachchi, Sandya S; Miller, Katherine E KE; Nieminen, Taina T TT; Comiskey, Daniel F DF; Li, Wei W; Brock, Pamela P; Symer, David E DE; Akagi, Keiko K; DeLap, Katherine E KE; He, Huiling H; Koboldt, Daniel C DC; de la Chapelle, Albert A
Publication Date: 2019-07
Variant appearance in text: ATM: Pro1054Arg; rs1800057
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: ATM: P1054R; rs1800057