Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930-2021.
Cancers
Holm, Magnus M; Vestergaard, Peter P; Poulsen, Morten Møller MM; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Bay, Mette M; Rolighed, Lars L; Londero, Stefano S; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Rask, Klara Bay KB; Nielsen, Heidi Hvid HH; Gaustadnes, Mette M; Rossing, Maria Caroline MC; Hermann, Anne Pernille AP; Godballe, Christian C; Mathiesen, Jes Sloth JS
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.
Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06
Variant appearance in text: RET: 1853G>A; rs79781594
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.
Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06
Variant appearance in text: RET: 1853G>A; rs79781594
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18
Variant appearance in text: RET: 1853G>A; Cys618Tyr; rs79781594
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH
Publication Date: 2020-11
Variant appearance in text: RET: 1853G>A; Cys618Tyr; rs79781594
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
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.
Jama Network Open
Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,
Publication Date: 2019-08-02
Variant appearance in text: RET: 1853G>A; Cys618Tyr
Analysis of Cell-Free DNA from 32,989 Advanced Cancers Reveals Novel Co-occurring Activating RET Alterations and Oncogenic Signaling Pathway Aberrations.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Rich, Thereasa A TA; Reckamp, Karen L KL; Chae, Young Kwang YK; Doebele, Robert C RC; Iams, Wade T WT; Oh, Michael M; Raymond, Victoria M VM; Lanman, Richard B RB; Riess, Jonathan W JW; Stinchcombe, Thomas E TE; Subbiah, Vivek V; Trevarthen, David R DR; Fairclough, Stephen S; Yen, Jennifer J; Gautschi, Oliver O
Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study.
Endocrine Connections
Mathiesen, Jes Sloth JS; Kroustrup, Jens Peter JP; Vestergaard, Peter P; Poulsen, Per Løgstrup PL; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Godballe, Christian C
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
Journal Of Endocrinological Investigation
Fanis, P P; Skordis, N N; Frangos, S S; Christopoulos, G G; Spanou-Aristidou, E E; Andreou, E E; Manoli, P P; Mavrommatis, M M; Nicolaou, S S; Kleanthous, M M; Cariolou, M A MA; Christophidou-Anastasiadou, V V; Tanteles, G A GA; Phylactou, L A LA; Neocleous, V V
Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.
Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
MicroRNA profiles in familial and sporadic medullary thyroid carcinoma: preliminary relationships with RET status and outcome.
Thyroid : Official Journal Of The American Thyroid Association
Mian, Caterina C; Pennelli, Gianmaria G; Fassan, Matteo M; Balistreri, Mariangela M; Barollo, Susi S; Cavedon, Elisabetta E; Galuppini, Francesca F; Pizzi, Marco M; Vianello, Federica F; Pelizzo, Maria Rosa MR; Girelli, Maria Elisa ME; Rugge, Massimo M; Opocher, Giuseppe G
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Nature Genetics
Goriely, Anne A; Hansen, Ruth M S RM; Taylor, Indira B IB; Olesen, Inge A IA; Jacobsen, Grete Krag GK; McGowan, Simon J SJ; Pfeifer, Susanne P SP; McVean, Gilean A T GA; Rajpert-De Meyts, Ewa E; Wilkie, Andrew O M AO