Publications:

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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: C611R; rs377767391

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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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: 1831T>C; Cys611Arg; rs377767391

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1
• ct9-12-e00431-s006.xlsx, sheet 1

View BVdb publication page

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RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant.

Journal Of Thyroid Research

Damavandi, Elia E; Vand-Rajabpour, Fatemeh F; Javadi-Arjmand, Maliheh M; Mohajeri Tehrani, Mohammad-Reza MR; Larijani, Bagher B; Kabuli, Majid M; Ghadami, Mohsen M

Publication Date: 2021

Variant appearance in text: RET: C611R

PubMed Link: 34777782

Variant Present in the following documents:

• JTR2021-7250870.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: RET: 1831T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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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

Publication Date: 2019-10-01

Variant appearance in text: RET: C611R

PubMed Link: 31300450

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel Prognostic Factors Associated with Cell Cycle Control in Sporadic Medullary Thyroid Cancer Patients.

International Journal Of Endocrinology

Pezzani, Raffaele R; Bertazza, Loris L; Cavedon, Elisabetta E; Censi, Simona S; Manso, Jacopo J; Watutantrige-Fernando, Sara S; Pennelli, Gianmaria G; Galuppini, Francesca F; Barollo, Susi S; Mian, Caterina C

Publication Date: 2019

Variant appearance in text: RET: C611R

PubMed Link: 30911297

Variant Present in the following documents:

• Main text
• IJE2019-9421079.pdf

View BVdb publication page

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A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Archives Of Endocrinology And Metabolism

Martins-Costa, Maria Cecília MC; Lindsey, Susan C SC; Cunha, Lucas L LL; Carreiro-Filho, Fernando Porto FP; Cortez, André P AP; Holanda, Marcelo E ME; Farias, J Wilson M de JWM; Lima, Sérgio B SB; Ferreira, Luís A Albano LAA; Maia Filho, Pedro Collares PC; Camacho, Cléber P CP; Furuzawa, Gilberto K GK; Kunii, Ilda S IS; Dias-da-Silva, Magnus R MR; Martins, João R M JRM; Maciel, Rui M B RMB

Publication Date: 2018

Variant appearance in text: RET: C611R

PubMed Link: 30624503

Variant Present in the following documents:

• Main text
• 2359-4292-aem-62-06-0623.pdf

View BVdb publication page

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RET rearrangements are actionable alterations in breast cancer.

Nature Communications

Paratala, Bhavna S BS; Chung, Jon H JH; Williams, Casey B CB; Yilmazel, Bahar B; Petrosky, Whitney W; Williams, Kirstin K; Schrock, Alexa B AB; Gay, Laurie M LM; Lee, Ellen E; Dolfi, Sonia C SC; Pham, Kien K; Lin, Stephanie S; Yao, Ming M; Kulkarni, Atul A; DiClemente, Frances F; Liu, Chen C; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S; Ross, Jeffrey S JS; Ali, Siraj M SM; Leyland-Jones, Brian B; Hirshfield, Kim M KM

Publication Date: 2018-11-16

Variant appearance in text: RET: C611R

PubMed Link: 30446652

Variant Present in the following documents:

• Main text
• 41467_2018_7341_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_Article_7341.pdf

View BVdb publication page

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Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Biomarker Insights

Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM

Publication Date: 2018

Variant appearance in text: RET: Cys611Arg

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C

Publication Date: 2018-11-01

Variant appearance in text: RET: Cys611Arg

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.

Clinical Cases In Mineral And Bone Metabolism : The Official Journal Of The Italian Society Of Osteoporosis, Mineral Metabolism, And Skeletal Diseases

Marini, Francesca F; Cianferotti, Luisella L; Giusti, Francesca F; Brandi, Maria Luisa ML

Publication Date: 2017

Variant appearance in text: RET: C611R

PubMed Link: 28740527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Plos One

Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A

Publication Date: 2017

Variant appearance in text: MEN2A: C611R

PubMed Link: 28542371

Variant Present in the following documents:

• pone.0178169.s009.xlsx, sheet 3

View BVdb publication page

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Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica.

Journal Of Cancer Epidemiology

Calvo, Javier J; Torrealba, Gabriel G; Sáenz, Adriana A; Santamaría, Carlos C; Morera, Estela E; Alvarado, Silvia S; Roa, Yolanda Y; González, Michelle M

Publication Date: 2016

Variant appearance in text: RET: C611R

PubMed Link: 28018431

Variant Present in the following documents:

• Main text
• JCE2016-9637173.pdf

View BVdb publication page

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Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Thyroid : Official Journal Of The American Thyroid Association

Mathiesen, Jes Sloth JS; Kroustrup, Jens Peter JP; Vestergaard, Peter P; Stochholm, Kirstine K; Poulsen, Per Løgstrup PL; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Gaustadnes, Mette M; Ørntoft, Torben Falck TF; van Overeem Hansen, Thomas T; Nielsen, Finn Cilius FC; Brixen, Kim K; Godballe, Christian C; Frederiksen, Anja Lisbeth AL

Publication Date: 2017-02

Variant appearance in text: RET: C611R

PubMed Link: 27809725

Variant Present in the following documents:

• Main text
• thy.2016.0411.pdf

View BVdb publication page

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Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology

Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2015

Variant appearance in text: RET: C611R

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HSCR1: C611R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RET: C611R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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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

Publication Date: 2015-02

Variant appearance in text: RET: C611R

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
• supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1
• ERC140491.pdf

View BVdb publication page

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Plot protein: visualization of mutations.

Journal Of Clinical Bioinformatics

Turner, Tychele T

Publication Date: 2013-07-22

Variant appearance in text: MEN2A: C611R

PubMed Link: 23876180

Variant Present in the following documents:

• 2043-9113-3-14.pdf

View BVdb publication page

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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

Publication Date: 2012-09

Variant appearance in text: RET: C611R

PubMed Link: 22747440

Variant Present in the following documents:

• Main text

View BVdb publication page

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Activity of XL184 (Cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kurzrock, Razelle R; Sherman, Steven I SI; Ball, Douglas W DW; Forastiere, Arlene A AA; Cohen, Roger B RB; Mehra, Ranee R; Pfister, David G DG; Cohen, Ezra E W EE; Janisch, Linda L; Nauling, Forlisa F; Hong, David S DS; Ng, Chaan S CS; Ye, Lei L; Gagel, Robert F RF; Frye, John J; Müller, Thomas T; Ratain, Mark J MJ; Salgia, Ravi R

Publication Date: 2011-07-01

Variant appearance in text: RET: C611R

PubMed Link: 21606412

Variant Present in the following documents:

• Main text

View BVdb publication page

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An introduction to managing medullary thyroid cancer.

Hereditary Cancer In Clinical Practice

de Groot, Jan Willem JW; Links, Thera P TP; Hofstra, Robert Mw RM; Plukker, John Tm JT

Publication Date: 2006-07-15

Variant appearance in text: RET: C611R

PubMed Link: 20223015

Variant Present in the following documents:

• 1897-4287-4-3-115.pdf

View BVdb publication page

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RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT

Publication Date: 2007-04

Variant appearance in text: RET: C611R

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

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