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
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
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
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
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
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
Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.
Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu
Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.
Endocrine Pathology
Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M
Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations.
Scientific Reports
Oczko-Wojciechowska, Malgorzata M; Swierniak, Michal M; Krajewska, Jolanta J; Kowalska, Malgorzata M; Kowal, Monika M; Stokowy, Tomasz T; Wojtas, Bartosz B; Rusinek, Dagmara D; Pawlaczek, Agnieszka A; Czarniecka, Agnieszka A; Szpak-Ulczok, Sylwia S; Gawlik, Tomasz T; Chmielik, Ewa E; Tyszkiewicz, Tomasz T; Nikiel, Barbara B; Lange, Dariusz D; Jarzab, Michal M; Wiench, Malgorzata M; Jarzab, Barbara B
Detection and Prognostic Significance of Circulating Tumor Cells in Patients With Metastatic Thyroid Cancer.
The Journal Of Clinical Endocrinology And Metabolism
Xu, Jian Yu JY; Handy, Beverly B; Michaelis, Christina L CL; Waguespack, Steven G SG; Hu, Mimi I MI; Busaidy, Naifa N; Jimenez, Camilo C; Cabanillas, Maria E ME; Fritsche, Herbert A HA; Cote, Gilbert J GJ; Sherman, Steven I SI
Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.
Oncology
Heilmann, Andreas M AM; Subbiah, Vivek V; Wang, Kai K; Sun, James X JX; Elvin, Julia A JA; Chmielecki, Juliann J; Sherman, Steven I SI; Murthy, Ravi R; Busaidy, Naifa L NL; Subbiah, Ishwaria I; Yelensky, Roman R; Nangia, Chaitali C; Vergilio, Jo-Anne JA; Khan, Saad A SA; Erlich, Rachel L RL; Lipson, Doron D; Ross, Jeffrey S JS; Miller, Vincent A VA; Shah, Manisha H MH; Ali, Siraj M SM; Stephens, Philip J PJ
Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer.
Plos Genetics
Ji, Jun Ho JH; Oh, Young Lyun YL; Hong, Mineui M; Yun, Jae Won JW; Lee, Hyun-Woo HW; Kim, DeokGeun D; Ji, Yongick Y; Kim, Duk-Hwan DH; Park, Woong-Yang WY; Shin, Hyun-Tae HT; Kim, Kyoung-Mee KM; Ahn, Myung-Ju MJ; Park, Keunchil K; Sun, Jong-Mu JM
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
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
Journal Of Korean Medical Science
Choi, Young Sik YS; Kwon, Hye Jung HJ; Kim, Bu Kyung BK; Kwon, Su Kyoung SK; Park, Yo Han YH; Kim, Jeong Hoon JH; Jung, Sang Bong SB; Lee, Chang Hoon CH; Lee, Seong Keun SK; Uchino, Shinya S
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
Sprouty1 is a candidate tumor-suppressor gene in medullary thyroid carcinoma.
Oncogene
Macià, A A; Gallel, P P; Vaquero, M M; Gou-Fabregas, M M; Santacana, M M; Maliszewska, A A; Robledo, M M; Gardiner, J R JR; Basson, M A MA; Matias-Guiu, X X; Encinas, M M
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
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
The Journal Of Molecular Diagnostics : Jmd
Barker, Shannon D SD; Bale, Sherri S; Booker, Jessica J; Buller, Arlene A; Das, Soma S; Friedman, Kenneth K; Godwin, Andrew K AK; Grody, Wayne W WW; Highsmith, Edward E; Kant, Jeffery A JA; Lyon, Elaine E; Mao, Rong R; Monaghan, Kristin G KG; Payne, Deborah A DA; Pratt, Victoria M VM; Schrijver, Iris I; Shrimpton, Antony E AE; Spector, Elaine E; Telatar, Milhan M; Toji, Lorraine L; Weck, Karen K; Zehnbauer, Barbara B; Kalman, Lisa V LV