Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Bmc Medicine
Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH
Publication Date: 2022-06-07
Variant appearance in text: RET: 1858T>G; Cys620Gly
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: 1858T>G; Cys620Gly
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.
Endocrine Connections
Maciel, Rui M B RMB; Camacho, Cleber P CP; Assumpção, Lígia V M LVM; Bufalo, Natassia E NE; Carvalho, André L AL; de Carvalho, Gisah A GA; Castroneves, Luciana A LA; de Castro, Francisco M FM; Ceolin, Lucieli L; Cerutti, Janete M JM; Corbo, Rossana R; Ferraz, Tânia M B L TMBL; Ferreira, Carla V CV; França, M Inez C MIC; Galvão, Henrique C R HCR; Germano-Neto, Fausto F; Graf, Hans H; Jorge, Alexander A L AAL; Kunii, Ilda S IS; Lauria, Márcio W MW; Leal, Vera L G VLG; Lindsey, Susan C SC; Lourenço, Delmar M DM; Maciel, Léa M Z LMZ; Magalhães, Patrícia K R PKR; Martins, João R M JRM; Martins-Costa, M Cecília MC; Mazeto, Gláucia M F S GMFS; Impellizzeri, Anelise I AI; Nogueira, Célia R CR; Palmero, Edenir I EI; Pessoa, Cencita H C N CHCN; Prada, Bibiana B; Siqueira, Débora R DR; Sousa, Maria Sharmila A MSA; Toledo, Rodrigo A RA; Valente, Flávia O F FOF; Vaisman, Fernanda F; Ward, Laura S LS; Weber, Shana S SS; Weiss, Rita V RV; Yang, Ji H JH; Dias-da-Silva, Magnus R MR; Hoff, Ana O AO; Toledo, Sergio P A SPA; Maia, Ana L AL
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Genome Biology
Gui, Hongsheng H; Schriemer, Duco D; Cheng, William W WW; Chauhan, Rajendra K RK; Antiňolo, Guillermo G; Berrios, Courtney C; Bleda, Marta M; Brooks, Alice S AS; Brouwer, Rutger W W RW; Burns, Alan J AJ; Cherny, Stacey S SS; Dopazo, Joaquin J; Eggen, Bart J L BJ; Griseri, Paola P; Jalloh, Binta B; Le, Thuy-Linh TL; Lui, Vincent C H VC; Luzón-Toro, Berta B; Matera, Ivana I; Ngan, Elly S W ES; Pelet, Anna A; Ruiz-Ferrer, Macarena M; Sham, Pak C PC; Shepherd, Iain T IT; So, Man-Ting MT; Sribudiani, Yunia Y; Tang, Clara S M CS; van den Hout, Mirjam C G N MC; van der Linde, Herma C HC; van Ham, Tjakko J TJ; van IJcken, Wilfred F J WF; Verheij, Joke B G M JB; Amiel, Jeanne J; Borrego, Salud S; Ceccherini, Isabella I; Chakravarti, Aravinda A; Lyonnet, Stanislas S; Tam, Paul K H PK; Garcia-Barceló, Maria-Mercè MM; Hofstra, Robert M W RM
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
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Clinics (Sao Paulo, Brazil)
Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA
Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Wells, Samuel A SA; Gosnell, Jessica E JE; Gagel, Robert F RF; Moley, Jeffrey J; Pfister, David D; Sosa, Julie A JA; Skinner, Michael M; Krebs, Annetta A; Vasselli, James J; Schlumberger, Martin M