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: R600Q; rs377767393

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Frontiers In Endocrinology

Park, Hye-Sun HS; Lee, Yeon Hee YH; Hong, Namki N; Won, Dongju D; Rhee, Yumie Y

Publication Date: 2022

Variant appearance in text: RET: 1799G>A

PubMed Link: 35586626

Variant Present in the following documents:

• Main text

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: RET: R600Q

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Bmc Cancer

Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Fang, Xu-Dong XD; Lian, Bi-Jun BJ; Li, Feng F; Wang, Hui-Hong HH; Cao, Zhi-Lie ZL; Zheng, Wei-Hui WH; Cao, Juan J; Chen, Yu Y

Publication Date: 2021-04-07

Variant appearance in text: RET: R600Q; rs377767393

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RET: 1799G>A; R600Q

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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CDK12-Altered Prostate Cancer: Clinical Features and Therapeutic Outcomes to Standard Systemic Therapies, Poly (ADP-Ribose) Polymerase Inhibitors, and PD-1 Inhibitors.

Jco Precision Oncology

Antonarakis, Emmanuel S ES; Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Agarwal, Neeraj N; Sacristan Santos, Victor V; Maughan, Benjamin L BL; Pili, Roberto R; Adra, Nabil N; Sternberg, Cora N CN; Vlachostergios, Panagiotis J PJ; Tagawa, Scott T ST; Bryce, Alan H AH; McNatty, Andrea L AL; Reichert, Zachery R ZR; Dreicer, Robert R; Sartor, Oliver O; Lotan, Tamara L TL; Hussain, Maha M

Publication Date: 2020

Variant appearance in text: RET: R600Q

PubMed Link: 32462107

Variant Present in the following documents:

• Main text

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: R600Q

PubMed Link: 30446652

Variant Present in the following documents:

• 41467_2018_7341_MOESM1_ESM.pdf
• 41467_2018_7341_MOESM6_ESM.xlsx, sheet 1

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: Arg600Gln

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: RET: 1799G>A; Arg600Gln; rs377767393

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

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: 1799G>A

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: R600Q

PubMed Link: 28740527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RET: 1799G>A; Arg600Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: RET: R600Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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: R600Q

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

View BVdb publication page

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Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population.

Archives Of Pathology & Laboratory Medicine

Gertz, Ryan J RJ; Nikiforov, Yuri Y; Rehrauer, William W; McDaniel, Lee L; Lloyd, Ricardo V RV

Publication Date: 2016-02

Variant appearance in text: RET: 1799G>A

PubMed Link: 26910217

Variant Present in the following documents:

• Main text

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: R600Q

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: R600Q

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: R600Q

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1

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: R600Q

PubMed Link: 20223015

Variant Present in the following documents:

• 1897-4287-4-3-115.pdf

View BVdb publication page

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