Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Serra-Camprubí, Queralt Q; Verdaguer, Helena H; Oliveros, Winona W; Lupión-Garcia, Núria N; Llop-Guevara, Alba A; Molina, Cristina C; Vila-Casadesús, Maria M; Turpin, Anthony A; Neuzillet, Cindy C; Frigola, Joan J; Querol, Jessica J; Yáñez-Bartolomé, Mariana M; Castet, Florian F; Fabregat-Franco, Carles C; Escudero-Iriarte, Carmen C; Escorihuela, Marta M; Arenas, Enrique J EJ; Bernado-Morales, Cristina C; Haro, Noemí N; Giles, Francis J FJ; Pozo, Oscar J OJ; Miquel, Josep M JM; Nuciforo, Paolo G PG; Vivancos, Ana A; Melé, Marta M; Serra, Violeta V; Arribas, Joaquín J; Tabernero, Josep J; Peiró, Sandra S; Macarulla, Teresa T; Tian, Tian V TV
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Frontiers In Endocrinology
Hansen, Anna Reimer AR; Borgwardt, Line L; Rasmussen, Åse Krogh ÅK; Godballe, Christian C; Poulsen, Morten Møller MM; Vieira, Filipe G FG; Mathiesen, Jes Sloth JS; Rossing, Maria M
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: RET: 166C>A; Leu56Met; rs145633958
Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.
Acta Neuropathologica
Golebiewska, Anna A; Hau, Ann-Christin AC; Oudin, Anaïs A; Stieber, Daniel D; Yabo, Yahaya A YA; Baus, Virginie V; Barthelemy, Vanessa V; Klein, Eliane E; Bougnaud, Sébastien S; Keunen, Olivier O; Wantz, May M; Michelucci, Alessandro A; Neirinckx, Virginie V; Muller, Arnaud A; Kaoma, Tony T; Nazarov, Petr V PV; Azuaje, Francisco F; De Falco, Alfonso A; Flies, Ben B; Richart, Lorraine L; Poovathingal, Suresh S; Arns, Thais T; Grzyb, Kamil K; Mock, Andreas A; Herold-Mende, Christel C; Steino, Anne A; Brown, Dennis D; May, Patrick P; Miletic, Hrvoje H; Malta, Tathiane M TM; Noushmehr, Houtan H; Kwon, Yong-Jun YJ; Jahn, Winnie W; Klink, Barbara B; Tanner, Georgette G; Stead, Lucy F LF; Mittelbronn, Michel M; Skupin, Alexander A; Hertel, Frank F; Bjerkvig, Rolf R; Niclou, Simone P SP
Differences between Well-Differentiated Neuroendocrine Tumors and Ductal Adenocarcinomas of the Pancreas Assessed by Multi-Omics Profiling.
International Journal Of Molecular Sciences
Starzyńska, Teresa T; Karczmarski, Jakub J; Paziewska, Agnieszka A; Kulecka, Maria M; Kuśnierz, Katarzyna K; Żeber-Lubecka, Natalia N; Ambrożkiewicz, Filip F; Mikula, Michał M; Kos-Kudła, Beata B; Ostrowski, Jerzy J
Publication Date: 2020-06-23
Variant appearance in text: RET: L56M; rs145633958
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
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: RET: 166C>A; L56M; rs145633958
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
Inactivating Mutation in IRF8 Promotes Osteoclast Transcriptional Programs and Increases Susceptibility to Tooth Root Resorption.
Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Thumbigere-Math, Vivek V; Foster, Brian L BL; Bachu, Mahesh M; Yoshii, Hiroaki H; Brooks, Stephen R SR; Coulter, Alyssa A; Chavez, Michael B MB; Togi, Sumihito S; Neely, Anthony L AL; Deng, Zuoming Z; Mansky, Kim C KC; Ozato, Keiko K; Somerman, Martha J MJ
Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.
Frontiers In Endocrinology
Paragliola, Rosa M RM; Lovicu, Rosa M RM; Papi, Giampaolo G; Capoluongo, Ettore E; Minucci, Angelo A; Canu, Giulia G; Pontecorvi, Alfredo A; Corsello, Salvatore M SM
Publication Date: 2018
Variant appearance in text: RET: 166C>A; rs145633958
A novel molecular diagnostics platform for somatic and germline precision oncology.
Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: RET: 166C>A; L56M; rs145633958
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20
Variant appearance in text: RET: 166C>A; L56M; rs145633958
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.
Nature Communications
Kovac, Michal M; Blattmann, Claudia C; Ribi, Sebastian S; Smida, Jan J; Mueller, Nikola S NS; Engert, Florian F; Castro-Giner, Francesc F; Weischenfeldt, Joachim J; Kovacova, Monika M; Krieg, Andreas A; Andreou, Dimosthenis D; Tunn, Per-Ulf PU; Dürr, Hans Roland HR; Rechl, Hans H; Schaser, Klaus-Dieter KD; Melcher, Ingo I; Burdach, Stefan S; Kulozik, Andreas A; Specht, Katja K; Heinimann, Karl K; Fulda, Simone S; Bielack, Stefan S; Jundt, Gernot G; Tomlinson, Ian I; Korbel, Jan O JO; Nathrath, Michaela M; Baumhoer, Daniel D
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
European Journal Of Human Genetics : Ejhg
Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: RET: 166C>A; Leu56Met; rs145633958
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: RET: L56M; rs145633958
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
Journal Of Human Genetics
Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL