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: Leu790Phe

PubMed Link: 37046785

Variant Present in the following documents:

• Main text
• cancers-15-02125.pdf

View BVdb publication page

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Temporal trends in referrals of RET gene carriers for neck surgery to a tertiary surgical center in the era of international management guidelines.

Endocrine

Machens, Andreas A; Lorenz, Kerstin K; Huessler, Eva-Maria EM; Stang, Andreas A; Weber, Frank F; Dralle, Henning H

Publication Date: 2022-12-02

Variant appearance in text: RET: Leu790Phe

PubMed Link: 36456885

Variant Present in the following documents:

• Main text
• 12020_2022_Article_3273.pdf

View BVdb publication page

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RET Proto-Oncogene-Not Such an Obvious Starting Point in Cancer Therapy.

Cancers

Kucharczyk, Tomasz T; Krawczyk, Paweł P; Kowalski, Dariusz M DM; Płużański, Adam A; Kubiatowski, Tomasz T; Kalinka, Ewa E

Publication Date: 2022-10-27

Variant appearance in text: MEN2A: L790F

PubMed Link: 36358717

Variant Present in the following documents:

• Main text
• cancers-14-05298.pdf

View BVdb publication page

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Integrated proteogenomic characterization of medullary thyroid carcinoma.

Cell Discovery

Shi, Xiao X; Sun, Yaoting Y; Shen, Cenkai C; Zhang, Yan Y; Shi, Rongliang R; Zhang, Fan F; Liao, Tian T; Lv, Guojun G; Zhu, Zhengcai Z; Jiao, Lianghe L; Li, Peng P; Xu, Tiansheng T; Qu, Ning N; Huang, Naisi N; Hu, Jiaqian J; Zhang, Tingting T; Gu, Yanzi Y; Qin, Guangqi G; Guan, Haixia H; Pu, Weilin W; Li, Yuan Y; Geng, Xiang X; Zhang, Yan Y; Chen, Tongzhen T; Huang, Shenglin S; Zhang, Zhikang Z; Ge, Shuting S; Wang, Wu W; Xu, Weibo W; Yu, Pengcheng P; Lu, Zhongwu Z; Wang, Yulong Y; Guo, Liang L; Wang, Yu Y; Guo, Tiannan T; Ji, Qinghai Q; Wei, Wenjun W

Publication Date: 2022-11-08

Variant appearance in text: RET: L790F; rs75030001

PubMed Link: 36344509

Variant Present in the following documents:

• 41421_2022_479_MOESM2_ESM.xlsx, sheet 1
• 41421_2022_479_MOESM4_ESM.xlsx, sheet 3

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: L790F; rs75030001

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Multiple endocrine neoplasia 2: an overview.

Therapeutic Advances In Chronic Disease

Saravana-Bawan, B B; Pasternak, J D JD

Publication Date: 2022

Variant appearance in text: RET: Leu790Phe

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

View BVdb publication page

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Continued Discontinuation of TKI Treatment in Medullary Thyroid Carcinoma - Lessons From Individual Cases With Long-Term Follow-Up.

Frontiers In Endocrinology

Brandenburg, Tim T; Tiedje, Vera V; Muchalla, Philipp P; Theurer, Sarah S; Weber, Frank F; Schmid, Kurt Werner KW; Dralle, Henning H; Führer, Dagmar D

Publication Date: 2021

Variant appearance in text: RET: L790F

PubMed Link: 34659114

Variant Present in the following documents:

• Main text
• fendo-12-718418.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: L790F

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Current Guidelines for Management of Medullary Thyroid Carcinoma.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Mijin M; Kim, Bo Hyun BH

Publication Date: 2021-06

Variant appearance in text: RET: L790F

PubMed Link: 34154310

Variant Present in the following documents:

• Main text
• enm-2021-1082.pdf

View BVdb publication page

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Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.

Croatian Medical Journal

Milićević, Sara S; Bergant, Damijan D; Žagar, Tina T; Perić, Barbara B

Publication Date: 2021-04-30

Variant appearance in text: RET: L790F

PubMed Link: 33938650

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

International Journal Of Molecular Sciences

Romei, Cristina C; Elisei, Rossella R

Publication Date: 2021-02-09

Variant appearance in text: MEN2A: L790F

PubMed Link: 33572167

Variant Present in the following documents:

• ijms-22-01726.pdf

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: L790F

PubMed Link: 33150251

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Rotunno, Melissa M; Barajas, Rolando R; Clyne, Mindy M; Hoover, Elise E; Simonds, Naoko I NI; Lam, Tram Kim TK; Mechanic, Leah E LE; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM

Publication Date: 2020-08

Variant appearance in text: RET: 2370G>C; L790F; rs75030001

PubMed Link: 32467344

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: L790F

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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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: L790F

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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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: RET: L790F; rs75030001

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s004.xlsx, sheet 6

View BVdb publication page

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Current Management of Pheochromocytoma/Paraganglioma: A Guide for the Practicing Clinician in the Era of Precision Medicine.

Cancers

Nölting, Svenja S; Ullrich, Martin M; Pietzsch, Jens J; Ziegler, Christian G CG; Eisenhofer, Graeme G; Grossman, Ashley A; Pacak, Karel K

Publication Date: 2019-10-08

Variant appearance in text: RET: L790F

PubMed Link: 31597347

Variant Present in the following documents:

• Main text
• cancers-11-01505.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: 2370G>C; L790F

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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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: 2370G>C; Leu790Phe

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

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: L790F

PubMed Link: 30763276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study.

Clinical Epidemiology

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; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; ,

Publication Date: 2019

Variant appearance in text: RET: L790F

PubMed Link: 30666164

Variant Present in the following documents:

• Main text

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: L790F

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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Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: 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; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C

Publication Date: 2019-03

Variant appearance in text: RET: L790F

PubMed Link: 30618340

Variant Present in the following documents:

• Main text
• thy.2018.0564.pdf

View BVdb publication page

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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Genome Research

Maher, Geoffrey J GJ; Ralph, Hannah K HK; Ding, Zhihao Z; Koelling, Nils N; Mlcochova, Hana H; Giannoulatou, Eleni E; Dhami, Pawan P; Paul, Dirk S DS; Stricker, Stefan H SH; Beck, Stephan S; McVean, Gilean G; Wilkie, Andrew O M AOM; Goriely, Anne A

Publication Date: 2018-12

Variant appearance in text: RET: 2370G>C

PubMed Link: 30355600

Variant Present in the following documents:

• supp_gr.239186.118_Supplemental_Table_S3.xlsx, sheet 2

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: Leu790Phe

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.

Endocrine Connections

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; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Djurhuus, Bjarki Ditlev BD; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; ,

Publication Date: 2018-06

Variant appearance in text: RET: L790F

PubMed Link: 29760189

Variant Present in the following documents:

• Main text
• ec-7-829.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: 2370G>C

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Journal Of The Endocrine Society

Newey, Paul J PJ; Berg, Jonathan N JN; Zhou, Kaixin K; Palmer, Colin N A CNA; Thakker, Rajesh V RV

Publication Date: 2017-12-01

Variant appearance in text: RET: Leu790Phe

PubMed Link: 29308445

Variant Present in the following documents:

• Main text
• js-01-12-1507.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs75030001

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Kraft, Ira L IL; Akshintala, Srivandana S; Zhu, Yuelin Y; Lei, Haiyan H; Derse-Anthony, Claudia C; Dombi, Eva E; Steinberg, Seth M SM; Lodish, Maya M; Waguespack, Steven G SG; Kapustina, Oxana O; Fox, Elizabeth E; Balis, Frank M FM; Merino, Maria J MJ; Meltzer, Paul S PS; Glod, John W JW; Shern, Jack F JF; Widemann, Brigitte C BC

Publication Date: 2018-02-15

Variant appearance in text: RET: Leu790Phe

PubMed Link: 29187393

Variant Present in the following documents:

• Main text

View BVdb publication page

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Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors.

Endocrine-Related Cancer

Wells, Samuel A SA

Publication Date: 2018-02

Variant appearance in text: RET: L790F

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

View BVdb publication page

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The results of molecular genetic testing for RET proto-oncogene mutations in patients with medullary thyroid carcinoma in a referral center after the two decade period.

Hippokratia

Rovcanin, B B; Damjanovic, S S; Zivaljevic, V V; Diklic, A A; Jovanovic, M M; Paunovic, I I

Publication Date: 2016

Variant appearance in text: RET: Leu790Phe

PubMed Link: 29097883

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial MTC with RET exon 8 Gly533Cys mutation: origin and prevalence of second malignancy.

Endocrine Connections

Saltiki, Katerina K; Anagnostou, Elli E; Simeakis, George G; Kouki, Sofia S; Angelopoulou, Anastasia A; Sarika, Leda L; Papathoma, Alexandra A; Alevizaki, Maria M

Publication Date: 2017-11

Variant appearance in text: RET: L790F

PubMed Link: 28951487

Variant Present in the following documents:

• Main text
• ec-6-676.pdf

View BVdb publication page

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Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.

The Journal Of Clinical Endocrinology And Metabolism

Voss, Rachel K RK; Feng, Lei L; Lee, Jeffrey E JE; Perrier, Nancy D ND; Graham, Paul H PH; Hyde, Samuel M SM; Nieves-Munoz, Frances F; Cabanillas, Maria E ME; Waguespack, Steven G SG; Cote, Gilbert J GJ; Gagel, Robert F RF; Grubbs, Elizabeth G EG

Publication Date: 2017-08-01

Variant appearance in text: RET: L790F

PubMed Link: 28609830

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nodular Thyroid Disease and Thyroid Cancer in the Era of Precision Medicine.

European Thyroid Journal

Zafon, Carles C; Díez, Juan J JJ; Galofré, Juan C JC; Cooper, David S DS

Publication Date: 2017-04

Variant appearance in text: RET: L790F

PubMed Link: 28589087

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: 2370G>C; Leu790Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

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

Brohl, Andrew S AS; Patidar, Rajesh R; Turner, Clesson E CE; Wen, Xinyu X; Song, Young K YK; Wei, Jun S JS; Calzone, Kathleen A KA; Khan, Javed J

Publication Date: 2017-08

Variant appearance in text: RET: L790F; rs75030001

PubMed Link: 28125078

Variant Present in the following documents:

• Main text

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: L790F

PubMed Link: 28018431

Variant Present in the following documents:

• Main text
• JCE2016-9637173.pdf

View BVdb publication page

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Expression of Tenascin C, EGFR, E-Cadherin, and TTF-1 in Medullary Thyroid Carcinoma and the Correlation with RET Mutation Status.

International Journal Of Molecular Sciences

Steiner, Florian F; Hauser-Kronberger, Cornelia C; Rendl, Gundula G; Rodrigues, Margarida M; Pirich, Christian C

Publication Date: 2016-07-09

Variant appearance in text: RET: L790F

PubMed Link: 27409604

Variant Present in the following documents:

• Main text
• ijms-17-01093.pdf

View BVdb publication page

---

Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology

Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2015

Variant appearance in text: RET: L790F

PubMed Link: 27014708

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey.

Journal Of Clinical Research In Pediatric Endocrinology

Aydoğan, Berna İmge Bİ; Yüksel, Bağdagül B; Tuna, Mazhar Müslüm MM; Navdar Başaran, Mehtap M; Akkurt Kocaeli, Ayşen A; Ertörer, Melek Eda ME; Aydın, Kadriye K; Güldiken, Sibel S; Şimşek, Yasin Y; Cihan Karaca, Züleyha Z; Yılmaz, Merve M; Aktürk, Müjde M; Anaforoğlu, İnan İ; Kebapçı, Nur N; Duran, Cevdet C; Taşlıpınar, Abdullah A; Kulaksızoğlu, Mustafa M; Gürsoy, Alptekin A; Dağdelen, Selçuk S; Erdoğan, Murat Faik MF

Publication Date: 2016-03-05

Variant appearance in text: RET: Leu790Phe

PubMed Link: 26758973

Variant Present in the following documents:

• JCRPE-8-13.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: RET: L790F; rs75030001

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: L790F

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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Selective use of vandetanib in the treatment of thyroid cancer.

Drug Design, Development And Therapy

Fallahi, Poupak P; Di Bari, Flavia F; Ferrari, Silvia Martina SM; Spisni, Roberto R; Materazzi, Gabriele G; Miccoli, Paolo P; Benvenga, Salvatore S; Antonelli, Alessandro A

Publication Date: 2015

Variant appearance in text: RET: L790F

PubMed Link: 26170630

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Novel Small Molecule Inhibitors of Oncogenic RET Kinase.

Plos One

Moccia, Marialuisa M; Liu, Qingsong Q; Guida, Teresa T; Federico, Giorgia G; Brescia, Annalisa A; Zhao, Zheng Z; Choi, Hwan Geun HG; Deng, Xianming X; Tan, Li L; Wang, Jinhua J; Billaud, Marc M; Gray, Nathanael S NS; Carlomagno, Francesca F; Santoro, Massimo M

Publication Date: 2015

Variant appearance in text: RET: L790F

PubMed Link: 26046350

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential expression of cell cycle regulators in CDK5-dependent medullary thyroid carcinoma tumorigenesis.

Oncotarget

Pozo, Karine K; Hillmann, Antje A; Augustyn, Alexander A; Plattner, Florian F; Hai, Tao T; Singh, Tanvir T; Ramezani, Saleh S; Sun, Xiankai X; Pfragner, Roswitha R; Minna, John D JD; Cote, Gilbert J GJ; Chen, Herbert H; Bibb, James A JA; Nwariaku, Fiemu E FE

Publication Date: 2015-05-20

Variant appearance in text: RET: L790F

PubMed Link: 25900242

Variant Present in the following documents:

• Main text

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Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Thyroid : Official Journal Of The American Thyroid Association

Wells, Samuel A SA; Asa, Sylvia L SL; Dralle, Henning H; Elisei, Rossella R; Evans, Douglas B DB; Gagel, Robert F RF; Lee, Nancy N; Machens, Andreas A; Moley, Jeffrey F JF; Pacini, Furio F; Raue, Friedhelm F; Frank-Raue, Karin K; Robinson, Bruce B; Rosenthal, M Sara MS; Santoro, Massimo M; Schlumberger, Martin M; Shah, Manisha M; Waguespack, Steven G SG; ,

Publication Date: 2015-06

Variant appearance in text: RET: L790F

PubMed Link: 25810047

Variant Present in the following documents:

• Main text

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(18)F-Fluorine-18-l-dihydroxyphenylalanine ((18)F-DOPA) positive isolated peritoneal carcinomatosis from a MENII-related medullary thyroid carcinoma. About an atypical metastatic site and utility of (18)F-FDOPA.

Clinical Case Reports

Aziz, Anne-Laure AL; Dierickx, Lawrence L; Courbon, Frederic F; Taïeb, David D; Zerdoud, Slimane S

Publication Date: 2015-02

Variant appearance in text: RET: L790F

PubMed Link: 25767701

Variant Present in the following documents:

• Main text
• ccr30003-0081.pdf

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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: L790F

PubMed Link: 25425582

Variant Present in the following documents:

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

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