Publications:

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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

Publication Date: 2023-04-02

Variant appearance in text: RET: Y791F

PubMed Link: 37046785

Variant Present in the following documents:

• cancers-15-02125.pdf

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: RET: 2372A>T; Y791F; rs77724903

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

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A single RET mutation in Hirschsprung disease induces intestinal aganglionosis via a dominant-negative mechanism.

Cellular And Molecular Gastroenterology And Hepatology

Sunardi, Mukhamad M; Ito, Keisuke K; Sato, Yuya Y; Uesaka, Toshihiro T; Iwasaki, Mitsuhiro M; Enomoto, Hideki H

Publication Date: 2022-12-12

Variant appearance in text: RET: Y791F

PubMed Link: 36521661

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine

Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G

Publication Date: 2022-09-20

Variant appearance in text: RET: Y791F

PubMed Link: 36125633

Variant Present in the following documents:

• Main text
• CAM4-12-4042-s001.xlsx, sheet 1
• CAM4-12-4042.pdf

View BVdb publication page

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Brain-restricted mTOR inhibition with binary pharmacology.

Nature

Zhang, Ziyang Z; Fan, Qiwen Q; Luo, Xujun X; Lou, Kevin K; Weiss, William A WA; Shokat, Kevan M KM

Publication Date: 2022-09

Variant appearance in text: RET: Y791F

PubMed Link: 36104566

Variant Present in the following documents:

• 41586_2022_5213_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A lymphatic-absorbed multi-targeted kinase inhibitor for myelofibrosis therapy.

Nature Communications

Ross, Brian D BD; Jang, Youngsoon Y; Welton, Amanda A; Bonham, Christopher A CA; Palagama, Dilrukshika S W DSW; Heist, Kevin K; Boppisetti, Jagadish J; Imaduwage, Kasun P KP; Robison, Tanner T; King, Leah R LR; Zhang, Edward Z EZ; Amirfazli, Cyrus C; Luker, Kathryn E KE; Lee, Winston Y WY; Luker, Gary D GD; Chenevert, Thomas L TL; Van Dort, Marcian E ME

Publication Date: 2022-08-17

Variant appearance in text: RET: Y791F

PubMed Link: 35977945

Variant Present in the following documents:

• 41467_2022_32486_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: Y791F; rs77724903

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Design and biological evaluation of substituted 5,7-dihydro-6H-indolo[2,3-c]quinolin-6-one as novel selective Haspin inhibitors.

Journal Of Enzyme Inhibition And Medicinal Chemistry

Avula, Sreenivas S; Peng, Xudan X; Lang, Xingfen X; Tortorella, Micky M; Josselin, Béatrice B; Bach, Stéphane S; Bourg, Stephane S; Bonnet, Pascal P; Buron, Frédéric F; Ruchaud, Sandrine S; Routier, Sylvain S; Neagoie, Cleopatra C

Publication Date: 2022-12

Variant appearance in text: RET: Y791F

PubMed Link: 35670091

Variant Present in the following documents:

• IENZ_A_2082419_SM0502.pdf

View BVdb publication page

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RET receptor signaling: Function in development, metabolic disease, and cancer.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Takahashi, Masahide M

Publication Date: 2022

Variant appearance in text: RET: Y791F

PubMed Link: 35283407

Variant Present in the following documents:

• Main text
• pjab-98-112.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: RET: Y791F; rs77724903

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-01-03

Variant appearance in text: RET: Tyr791Phe

PubMed Link: 34981673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-02

Variant appearance in text: RET: Tyr791Phe

PubMed Link: 34981673

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2021

Variant appearance in text: RET: Y791F

PubMed Link: 34925234

Variant Present in the following documents:

• fendo-12-764512.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: RET: Y791F

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Cancers

Sarkadi, Balazs B; Liko, Istvan I; Nyiro, Gabor G; Igaz, Peter P; Butz, Henriett H; Patocs, Attila A

Publication Date: 2021-08-22

Variant appearance in text: RET: 2372A>T

PubMed Link: 34439371

Variant Present in the following documents:

• Main text
• cancers-13-04219.pdf

View BVdb publication page

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Phosphorylated WNK kinase networks in recoded bacteria recapitulate physiological function.

Cell Reports

Schiapparelli, Paula P; Pirman, Natasha L NL; Mohler, Kyle K; Miranda-Herrera, Pierre A PA; Zarco, Natanael N; Kilic, Onur O; Miller, Chad C; Shah, Sagar R SR; Rogulina, Svetlana S; Hungerford, William W; Abriola, Laura L; Hoyer, Denton D; Turk, Benjamin E BE; Guerrero-Cázares, Hugo H; Isaacs, Farren J FJ; Quiñones-Hinojosa, Alfredo A; Levchenko, Andre A; Rinehart, Jesse J

Publication Date: 2021-07-20

Variant appearance in text: RET: Y791F

PubMed Link: 34289367

Variant Present in the following documents:

• NIHMS1726840-supplement-2.xlsx, sheet 1

View BVdb publication page

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Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy.

International Journal Of Dermatology And Venereology

Dasgeb, Bahar B; Leila, Youssefian Y; Saeidian, Amir Hossein AH; Kang, Jun J; Shi, Wenyin W; Shoenberg, Elizabeth E; Ertel, Adam A; Fortina, Paolo P; Vahidnezhad, Hassan H; Uitto, Jouni J

Publication Date: 2021-06

Variant appearance in text: RET: 2372A>T; Y791F; rs77724903

PubMed Link: 34278326

Variant Present in the following documents:

• Main text
• ijdv-4-070.pdf

View BVdb publication page

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RET Regulates Human Medullary Thyroid Cancer Cell Proliferation through CDK5 and STAT3 Activation.

Biomolecules

Yue, Chia-Herng CH; Oner, Muhammet M; Chiu, Chih-Yuan CY; Chen, Mei-Chih MC; Teng, Chieh-Lin CL; Wang, Hsin-Yi HY; Hsieh, Jer-Tsong JT; Lai, Chih-Ho CH; Lin, Ho H

Publication Date: 2021-06-09

Variant appearance in text: RET: Y791F

PubMed Link: 34207842

Variant Present in the following documents:

• biomolecules-11-00860.pdf

View BVdb publication page

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Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.

Medicine

Moore, Assaf A; Bar, Yael Y; Maurice-Dror, Corinne C; Finkel, Inbar I; Goldvaser, Hadar H; Dudnik, Elizabeth E; Goldstein, Daniel A DA; Gordon, Noa N; Billan, Salem S; Gutfeld, Orit O; Wolf, Ido I; Popovtzer, Aron A

Publication Date: 2021-06-25

Variant appearance in text: RET: Y791F

PubMed Link: 34160418

Variant Present in the following documents:

• Main text
• medi-100-e26388.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: RET: 2372A>T; Tyr791Phe; rs77724903

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: RET: 2372A>T; Tyr791Phe; rs77724903

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Medullary thyroid cancer: molecular factors, management and treatment.

Romanian Journal Of Morphology And Embryology = Revue Roumaine De Morphologie Et Embryologie

Pavlidis, Efstathios E; Sapalidis, Konstantinos K; Chatzinikolaou, Fotios F; Kesisoglou, Isaak I

Publication Date: 2020

Variant appearance in text: RET: Y791F

PubMed Link: 33817709

Variant Present in the following documents:

• Main text
• RJME-61-3-681.pdf

View BVdb publication page

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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: 2372A>T; Tyr791Phe; rs77724903

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss and CDKN2A/B Homozygous Deletion on Recurrence-Free Survival.

Cancers

Barresi, Valeria V; Simbolo, Michele M; Fioravanzo, Adele A; Piredda, Maria Liliana ML; Caffo, Maria M; Ghimenton, Claudio C; Pinna, Giampietro G; Longhi, Michele M; Nicolato, Antonio A; Scarpa, Aldo A

Publication Date: 2021-02-21

Variant appearance in text: RET: Y791F

PubMed Link: 33670055

Variant Present in the following documents:

• Main text
• cancers-13-00903-s001.xlsx, sheet 1

View BVdb publication page

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Adoptive T cell immunotherapy for medullary thyroid carcinoma targeting GDNF family receptor alpha 4.

Molecular Therapy Oncolytics

Bhoj, Vijay G VG; Li, Lucy L; Parvathaneni, Kalpana K; Zhang, Zheng Z; Kacir, Stephen S; Arhontoulis, Dimitrios D; Zhou, Kenneth K; McGettigan-Croce, Bevin B; Nunez-Cruz, Selene S; Gulendran, Gayathri G; Boesteanu, Alina C AC; Johnson, Laura L; Feldman, Michael D MD; Radaelli, Enrico E; Mansfield, Keith K; Nasrallah, MacLean M; Goydel, Rebecca S RS; Peng, Haiyong H; Rader, Christoph C; Milone, Michael C MC; Siegel, Don L DL

Publication Date: 2021-03-26

Variant appearance in text: RET: Tyr791Phe

PubMed Link: 33614919

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Frontiers In Genetics

Snezhkina, Anastasiya V AV; Fedorova, Maria S MS; Pavlov, Vladislav S VS; Kalinin, Dmitry V DV; Golovyuk, Alexander L AL; Pudova, Elena A EA; Guvatova, Zulfiya G ZG; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Razmakhaev, George S GS; Poloznikov, Andrey A AA; Alekseeva, Galina S GS; Kaprin, Andrey D AD; Krasnov, George S GS; Kudryavtseva, Anna V AV

Publication Date: 2020

Variant appearance in text: RET: Y791F; rs77724903

PubMed Link: 33391357

Variant Present in the following documents:

• Main text
• fgene-11-614908.pdf

View BVdb publication page

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: RET: 2372A>T; Tyr791Phe

PubMed Link: 33332384

Variant Present in the following documents:

• pgen.1009231.s001.xlsx, sheet 2

View BVdb publication page

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Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers.

Cancers

Taghizadeh, Hossein H; Mader, Robert M RM; Müllauer, Leonhard L; Fuereder, Thorsten T; Kautzky-Willer, Alexandra A; Prager, Gerald W GW

Publication Date: 2020-11-15

Variant appearance in text: RET: 2372A>T

PubMed Link: 33203166

Variant Present in the following documents:

• Main text

View BVdb publication page

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Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.

Cancers

Innella, Giovanni G; Rossi, Cesare C; Romagnoli, Maria M; Repaci, Andrea A; Bianchi, Davide D; Cantarini, Maria Elena ME; Martorana, Davide D; Godino, Lea L; Pession, Andrea A; Percesepe, Antonio A; Pagotto, Uberto U; Turchetti, Daniela D

Publication Date: 2020-11-05

Variant appearance in text: RET: 2372A>T

PubMed Link: 33167350

Variant Present in the following documents:

• Main text

View BVdb publication page

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Roles of the RET Proto-oncogene in Cancer and Development.

Jma Journal

Takahashi, Masahide M; Kawai, Kumi K; Asai, Naoya N

Publication Date: 2020-07-15

Variant appearance in text: RET: Tyr791Phe

PubMed Link: 33150251

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current status of the prognostic molecular markers in medullary thyroid carcinoma.

Endocrine Connections

Oczko-Wojciechowska, Malgorzata M; Czarniecka, Agnieszka A; Gawlik, Tomasz T; Jarzab, Barbara B; Krajewska, Jolanta J

Publication Date: 2020-12

Variant appearance in text: RET: Y791F

PubMed Link: 33112827

Variant Present in the following documents:

• EC-20-0374.pdf

View BVdb publication page

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The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine

Yang, Zheng Z; Qi, Xinmeng X; Gross, Neil N; Kou, Xiujuan X; Bai, Yunlong Y; Feng, Yaru Y; Wang, Bochun B; Zafereo, Mark E ME; Li, Guojun G; Sun, Chuanzheng C; Li, Huihui H; Chen, Xiaohong X; Huang, Zhigang Z

Publication Date: 2020-11

Variant appearance in text: RET: Y791F

PubMed Link: 32989896

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.

International Journal Of Molecular Sciences

Snezhkina, Anastasiya V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Lukyanova, Elena N EN; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Savvateeva, Maria V MV; Stepanov, Oleg A OA; Poloznikov, Andrey A AA; Demidova, Tatiana B TB; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Kudryavtseva, Anna V AV

Publication Date: 2020-09-22

Variant appearance in text: RET: 2372A>T; Tyr791Phe; rs77724903

PubMed Link: 32971818

Variant Present in the following documents:

• Main text
• ijms-21-06950.pdf

View BVdb publication page

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Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

Plos One

Obeidova, Lena L; Seeman, Tomas T; Fencl, Filip F; Blahova, Kveta K; Hojny, Jan J; Elisakova, Veronika V; Reiterova, Jana J; Stekrova, Jitka J

Publication Date: 2020

Variant appearance in text: RET: Tyr791Phe; rs77724903

PubMed Link: 32574212

Variant Present in the following documents:

• Main text
• pone.0235071.pdf

View BVdb publication page

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A cell permeant phosphopeptide mimetic of Niban inhibits p38 MAPK and restores endothelial function after injury.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yim, Tsz Wing TW; Perling, Daniel D; Polcz, Monica M; Komalavilas, Padmini P; Brophy, Colleen C; Cheung-Flynn, Joyce J

Publication Date: 2020-07

Variant appearance in text: RET: Y791F

PubMed Link: 32396246

Variant Present in the following documents:

• FSB2-34-9180-s009.xls, sheet 3

View BVdb publication page

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Grading of medullary thyroid carcinoma on the basis of tumor necrosis and high mitotic rate is an independent predictor of poor outcome.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Alzumaili, Bayan B; Xu, Bin B; Spanheimer, Philip M PM; Tuttle, R Michael RM; Sherman, Eric E; Katabi, Nora N; Dogan, Snjezana S; Ganly, Ian I; Untch, Brian R BR; Ghossein, Ronald A RA

Publication Date: 2020-09

Variant appearance in text: RET: Y791F

PubMed Link: 32313184

Variant Present in the following documents:

• Main text
• nihms-1577738.pdf

View BVdb publication page

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Comprehensive Immune Profiling of Medullary Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association

Pozdeyev, Nikita N; Erickson, Timothy A TA; Zhang, Lian L; Ellison, Kim K; Rivard, Christopher J CJ; Sams, Sharon S; Hirsch, Fred R FR; Haugen, Bryan R BR; French, Jena D JD

Publication Date: 2020-09

Variant appearance in text: RET: Y791F

PubMed Link: 32242507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: RET: Y791F

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International

Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R

Publication Date: 2020

Variant appearance in text: RET: 2372A>T; Tyr791Phe

PubMed Link: 32090079

Variant Present in the following documents:

• BMRI2020-3289023.pdf

View BVdb publication page

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Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors.

The Journal Of Clinical Investigation

Ronellenfitsch, Michael W MW; Harter, Patrick N PN; Kirchner, Martina M; Heining, Christoph C; Hutter, Barbara B; Gieldon, Laura L; Schittenhelm, Jens J; Schuhmann, Martin U MU; Tatagiba, Marcos M; Marquardt, Gerhard G; Wagner, Marlies M; Endris, Volker V; Brandts, Christian H CH; Mautner, Victor-Felix VF; Schröck, Evelin E; Weichert, Wilko W; Brors, Benedikt B; von Deimling, Andreas A; Mittelbronn, Michel M; Steinbach, Joachim P JP; Reuss, David E DE; Glimm, Hanno H; Stenzinger, Albrecht A; Fröhling, Stefan S

Publication Date: 2020-05-01

Variant appearance in text: RET: Tyr791Phe

PubMed Link: 32017710

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2372A>T; Y791F; rs77724903

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RET: Y791F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine

Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O

Publication Date: 2019-12

Variant appearance in text: RET: 2372A>T; Y791F

PubMed Link: 31768065

Variant Present in the following documents:

• NIHMS1541330-supplement-1.pdf

View BVdb publication page

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Long-Term Oncologic Outcomes After Curative Resection of Familial Medullary Thyroid Carcinoma.

Annals Of Surgical Oncology

Spanheimer, Philip M PM; Ganly, Ian I; Chou, Joanne J; Capanu, Marinela M; Ghossein, Ronald A RA; Tuttle, R Michael RM; Wong, Richard J RJ; Shaha, Ashok R AR; Untch, Brian R BR

Publication Date: 2019-12

Variant appearance in text: RET: Y791F

PubMed Link: 31549322

Variant Present in the following documents:

• Main text

View BVdb publication page

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Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: Y791F

PubMed Link: 31510104

Variant Present in the following documents:

• Main text

View BVdb publication page

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DS-1205b, a novel selective inhibitor of AXL kinase, blocks resistance to EGFR-tyrosine kinase inhibitors in a non-small cell lung cancer xenograft model.

Oncotarget

Jimbo, Takeshi T; Hatanaka, Mana M; Komatsu, Takahiro T; Taira, Tomoe T; Kumazawa, Kentaro K; Maeda, Naoyuki N; Suzuki, Takashi T; Ota, Masahiro M; Haginoya, Noriyasu N; Isoyama, Takeshi T; Fujiwara, Kosaku K

Publication Date: 2019-08-27

Variant appearance in text: RET: Y791F

PubMed Link: 31497246

Variant Present in the following documents:

• oncotarget-10-5152-s001.pdf

View BVdb publication page

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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

Publication Date: 2019-09-04

Variant appearance in text: RET: 2372A>T; Y791F

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Nature Communications

Katayama, Ryohei R; Gong, Bo B; Togashi, Noriko N; Miyamoto, Masaya M; Kiga, Masaki M; Iwasaki, Shiho S; Kamai, Yasuki Y; Tominaga, Yuichi Y; Takeda, Yasuyuki Y; Kagoshima, Yoshiko Y; Shimizu, Yuki Y; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Nakao, Naoki N; Hanzawa, Hiroyuki H; Watanabe, Kengo K; Yoda, Satoshi S; Yanagitani, Noriko N; Hata, Aaron N AN; Shaw, Alice T AT; Nishio, Makoto M; Fujita, Naoya N; Isoyama, Takeshi T

Publication Date: 2019-08-09

Variant appearance in text: RET: Y791F

PubMed Link: 31399568

Variant Present in the following documents:

• 41467_2019_11496_MOESM6_ESM.xlsx, sheet 10
• 41467_2019_11496_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: MEN2A: Y791F

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Large-scale Discovery of Substrates of the Human Kinome.

Scientific Reports

Sugiyama, Naoyuki N; Imamura, Haruna H; Ishihama, Yasushi Y

Publication Date: 2019-07-19

Variant appearance in text: RET: Y791F

PubMed Link: 31324866

Variant Present in the following documents:

• 41598_2019_46385_MOESM6_ESM.xlsx, sheet 2
• 41598_2019_46385_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma.

Bmc Medical Genomics

Bim, Larissa V LV; Navarro, Fábio C P FCP; Valente, Flávia O F FOF; Lima-Junior, José V JV; Delcelo, Rosana R; Dias-da-Silva, Magnus R MR; Maciel, Rui M B RMB; Galante, Pedro A F PAF; Cerutti, Janete M JM

Publication Date: 2019-07-09

Variant appearance in text: RET: Y791F

PubMed Link: 31288802

Variant Present in the following documents:

• Main text
• 12920_2019_Article_552.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: RET: 2372A>T; Tyr791Phe

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Influence of TP53 Mutation on Survival in Patients With Advanced EGFR-Mutant Non-Small-Cell Lung Cancer.

Jco Precision Oncology

Aggarwal, Charu C; Davis, Christiana W CW; Mick, Rosemarie R; Thompson, Jeffrey C JC; Ahmed, Saman S; Jeffries, Seth S; Bagley, Stephen S; Gabriel, Peter P; Evans, Tracey L TL; Bauml, Joshua M JM; Ciunci, Christine C; Alley, Evan E; Morrissette, Jennifer J D JJD; Cohen, Roger B RB; Carpenter, Erica L EL; Langer, Corey J CJ

Publication Date: 2018

Variant appearance in text: RET: Y791F

PubMed Link: 30766968

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2019-03-01

Variant appearance in text: RET: Y791F

PubMed Link: 30763276

Variant Present in the following documents:

• EC-18-0506.pdf

View BVdb publication page

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