Publications:

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The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

Biomedicines

Tiucă, Robert Aurelian RA; Tiucă, Oana Mirela OM; Pașcanu, Ionela Maria IM

Publication Date: 2023-04-02

Variant appearance in text: RET: S836S

PubMed Link: 37189693

Variant Present in the following documents:

• Main text
• biomedicines-11-01075.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Medullary Thyroid Carcinoma Mutational Spectrum Update and Signaling-Type Inference by Transcriptional Profiles: Literature Meta-Analysis and Study of Tumor Samples.

Cancers

Minna, Emanuela E; Romeo, Paola P; Dugo, Matteo M; De Cecco, Loris L; Aiello, Antonella A; Pistore, Federico F; Carenzo, Andrea A; Greco, Angela A; Borrello, Maria Grazia MG

Publication Date: 2022-04-13

Variant appearance in text: RET: S836S

PubMed Link: 35454858

Variant Present in the following documents:

• cancers-14-01951.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: RET: 2508C>T; S836S; rs1800862

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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: 2508C>T; rs1800862

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: 2508C>T; rs1800862

PubMed Link: 34981673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence.

Journal Of Oncology

Ran, Ran R; Tu, Gang G; Li, Hui H; Wang, Hao H; Mou, Exian E; Liu, Caiyang C

Publication Date: 2021

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 34950210

Variant Present in the following documents:

• Main text
• JO2021-9967599.pdf

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: MEN2A: S836S

PubMed Link: 34777782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma.

International Journal Of Molecular Sciences

Skalniak, Anna A; Trofimiuk-Müldner, Małgorzata M; Przybylik-Mazurek, Elwira E; Hubalewska-Dydejczyk, Alicja A

Publication Date: 2021-10-30

Variant appearance in text: RET: 2508C>T; S836=; rs1800862

PubMed Link: 34769224

Variant Present in the following documents:

• Main text
• ijms-22-11794.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: S836S

PubMed Link: 33938650

Variant Present in the following documents:

• Main text

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: S836S; rs1800862

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.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: 2508C>T; Ser836=; rs1800862

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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The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: RET: 2508C>T; Ser836Ser; rs1800862

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: RET: 2508C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: S836S

PubMed Link: 33112827

Variant Present in the following documents:

• Main text
• 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: S836S

PubMed Link: 32989896

Variant Present in the following documents:

• JCMM-24-13163.pdf

View BVdb publication page

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs1800862

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

View BVdb publication page

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Modulatory Role of Single Nucleotide Polymorphisms of Distinct Genetic Pathways on Clinical Behavior of Medullary Thyroid Carcinoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R

Publication Date: 2020-05-01

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 32458635

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Frontiers In Endocrinology

Mathiesen, Jes Sloth JS; Nielsen, Søren Grønlund SG; Rasmussen, Åse Krogh ÅK; Kiss, Katalin K; Wadt, Karin K; Hermann, Anne Pernille AP; Nielsen, Morten Frost MF; Larsen, Stine Rosenkilde SR; Brusgaard, Klaus K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; Rossing, Maria M

Publication Date: 2020

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 32411094

Variant Present in the following documents:

• Main text
• fendo-11-00251.pdf

View BVdb publication page

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Temozolomide Is a Potential Therapeutic Tool for Patients With Metastatic Pheochromocytoma/Paraganglioma-Case Report and Review of the Literature.

Frontiers In Endocrinology

Tong, Anli A; Li, Ming M; Cui, Yunying Y; Ma, Xiaosen X; Wang, Huiping H; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: RET: 2508C>T; Ser836Ser; rs1800862

PubMed Link: 32132978

Variant Present in the following documents:

• Data_Sheet_2.xls, sheet 1

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: 2508C>T; rs1800862

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.

Genes

Luzón-Toro, Berta B; Fernández, Raquel María RM; Villalba-Benito, Leticia L; Torroglosa, Ana A; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2019-11-08

Variant appearance in text: RET: 2508C>T; S836S; rs1800862

PubMed Link: 31717449

Variant Present in the following documents:

• Main text
• genes-10-00913.pdf

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Cancer Medicine

Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R

Publication Date: 2019-10

Variant appearance in text: RET: S836S

PubMed Link: 31408923

Variant Present in the following documents:

• Main text
• CAM4-8-6151.pdf

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: S836S

PubMed Link: 30763276

Variant Present in the following documents:

• EC-18-0506.pdf

View BVdb publication page

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Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain.

Frontiers In Pharmacology

Kringel, Dario D; Kaunisto, Mari A MA; Lippmann, Catharina C; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2018

Variant appearance in text: rs1800862

PubMed Link: 30283335

Variant Present in the following documents:

• Main text
• fphar-09-01008.pdf

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: RET: S836S

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s005.xlsx, sheet 1

View BVdb publication page

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Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas.

Journal Of The Endocrine Society

Roszko, Kelly Lauter KL; Blouch, Erica E; Blake, Michael M; Powers, James F JF; Tischler, Arthur S AS; Hodin, Richard R; Sadow, Peter P; Lawson, Elizabeth A EA

Publication Date: 2017-11-01

Variant appearance in text: RET: 2508C>T

PubMed Link: 29264463

Variant Present in the following documents:

• Main text

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: Ser836Ser

PubMed Link: 29187393

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2017-09

Variant appearance in text: RET: 2508C>T; Ser836Ser

PubMed Link: 28647780

Variant Present in the following documents:

• Main text
• 12022_2017_Article_9487.pdf

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: 2508C>T; Ser836=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics

Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A

Publication Date: 2017-02-15

Variant appearance in text: RET: S836S

PubMed Link: 28202063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A.

Endocrinology, Diabetes & Metabolism Case Reports

Speak, Rowena R; Cook, Jackie J; Harrison, Barney B; Newell-Price, John J

Publication Date: 2016

Variant appearance in text: RET: S836S

PubMed Link: 27994876

Variant Present in the following documents:

• Main text
• edmcr-2016-160093.pdf

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: RET: 2508C>T; rs1800862

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Molecular genetics of thyroid cancer.

Genetics Research

Rebaї, Maha M; Rebaї, Ahmed A

Publication Date: 2016-05-13

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 27174043

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma.

Plos One

Ceolin, Lucieli L; Romitti, Mirian M; Siqueira, Débora Rodrigues DR; Vaz Ferreira, Carla C; Oliboni Scapineli, Jessica J; Assis-Brazil, Beatriz B; Vieira Maximiano, Rodolfo R; Dias Amarante, Tauanne T; de Souza Nunes, Miriam Celi MC; Weber, Gerald G; Maia, Ana Luiza AL

Publication Date: 2016

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 26829565

Variant Present in the following documents:

• Main text
• pone.0147840.pdf

View BVdb publication page

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RET polymorphisms might be the risk factors for thyroid cancer.

International Journal Of Clinical And Experimental Pathology

Huang, Rui-Xue RX; Yang, Fei F

Publication Date: 2015

Variant appearance in text: RET: S836S

PubMed Link: 26191299

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: RET: 2508C>T; S836S; rs1800862

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: RET: S836S

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.

Orphanet Journal Of Rare Diseases

Colombo, Carla C; Minna, Emanuela E; Rizzetti, Maria Grazia MG; Romeo, Paola P; Lecis, Daniele D; Persani, Luca L; Mondellini, Piera P; Pierotti, Marco A MA; Greco, Angela A; Fugazzola, Laura L; Borrello, Maria Grazia MG

Publication Date: 2015-03-01

Variant appearance in text: RET: S836S

PubMed Link: 25887804

Variant Present in the following documents:

• 13023_2015_Article_231.pdf

View BVdb publication page

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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: S836S

PubMed Link: 25810047

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics

Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2014-12

Variant appearance in text: RET: S836S

PubMed Link: 25530832

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Association of RET genetic polymorphisms and haplotypes with papillary thyroid carcinoma in the Portuguese population: a case-control study.

Plos One

Santos, Marina M; Azevedo, Teresa T; Martins, Teresa T; Rodrigues, Fernando J FJ; Lemos, Manuel C MC

Publication Date: 2014

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 25330015

Variant Present in the following documents:

• Main text
• pone.0109822.pdf

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RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.

Plos One

Vaclavikova, Eliska E; Dvorakova, Sarka S; Skaba, Richard R; Pos, Lucie L; Sykorova, Vlasta V; Halkova, Tereza T; Vcelak, Josef J; Bendlova, Bela B

Publication Date: 2014

Variant appearance in text: RET: Ser836Ser; rs1800862

PubMed Link: 24897126

Variant Present in the following documents:

• Main text
• pone.0098957.pdf

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Reduced tissue inhibitor of metalloproteinase-2 expression is associated with advanced medullary thyroid carcinoma.

Oncology Letters

Wajner, Simone Magagnin SM; Capp, Clarissa C; Brasil, Beatriz Assis BA; Meurer, Luise L; Maia, Ana Luiza AL

Publication Date: 2014-03

Variant appearance in text: RET: S836S

PubMed Link: 24527080

Variant Present in the following documents:

• ol-07-03-0731.pdf

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A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Clinics (Sao Paulo, Brazil)

Toledo, Sergio P A SP; Lourenço, Delmar M DM; Toledo, Rodrigo A RA

Publication Date: 2013-07

Variant appearance in text: RET: S836S

PubMed Link: 23917672

Variant Present in the following documents:

• Main text

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Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma.

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

Fox, Elizabeth E; Widemann, Brigitte C BC; Chuk, Meredith K MK; Marcus, Leigh L; Aikin, Alberta A; Whitcomb, Patricia O PO; Merino, Maria J MJ; Lodish, Maya M; Dombi, Eva E; Steinberg, Seth M SM; Wells, Samuel A SA; Balis, Frank M FM

Publication Date: 2013-08-01

Variant appearance in text: RET: S836S

PubMed Link: 23766359

Variant Present in the following documents:

• Main text

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Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

Plos One

Rusmini, Marta M; Griseri, Paola P; Lantieri, Francesca F; Matera, Ivana I; Hudspeth, Kelly L KL; Roberto, Alessandra A; Mikulak, Joanna J; Avanzini, Stefano S; Rossi, Valentina V; Mattioli, Girolamo G; Jasonni, Vincenzo V; Ravazzolo, Roberto R; Pavan, William J WJ; Pini-Prato, Alessio A; Ceccherini, Isabella I; Mavilio, Domenico D

Publication Date: 2013

Variant appearance in text: rs1800862

PubMed Link: 23527089

Variant Present in the following documents:

• Main text

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The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Thyroid Research

Fugazzola, Laura L; De Leo, Simone S; Perrino, Michela M

Publication Date: 2013-03-14

Variant appearance in text: RET: S836S

PubMed Link: 23514012

Variant Present in the following documents:

• Main text

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Efficacy and tolerability of pharmacotherapy options for the treatment of medullary thyroid cancer.

Clinical Medicine Insights. Oncology

Deshpande, H A HA; Sheth, K K; Sosa, J A JA; Roman, S S

Publication Date: 2012

Variant appearance in text: RET: S836S

PubMed Link: 23133319

Variant Present in the following documents:

• Main text
• cmo-6-2012-355.pdf

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Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report.

Case Reports In Endocrinology

Cetin, Deniz D; Unübol, Mustafa M; Soyder, Aykut A; Güney, Engin E; Coşkun, Adil A; Ozbaş, Serdar S; Unsal, Alparslan A; Erkuş, Muhan M

Publication Date: 2012

Variant appearance in text: RET: S836S

PubMed Link: 23119190

Variant Present in the following documents:

• Main text

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Genetic alterations in medullary thyroid cancer: diagnostic and prognostic markers.

Current Genomics

A, Taccaliti T; F, Silvetti S; G, Palmonella P; M, Boscaro B

Publication Date: 2011-12

Variant appearance in text: RET: S836S

PubMed Link: 22654561

Variant Present in the following documents:

• Main text

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Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.

Clinics (Sao Paulo, Brazil)

Lendvai, Nikoletta N; Tóth, Miklos M; Valkusz, Zsuzsanna Z; Bekő, Gabriella G; Szücs, Nikolette N; Csajbók, Eva E; Igaz, Péter P; Kriszt, Balázs B; Kovács, Balázs B; Rácz, Károly K; Patócs, Attila A

Publication Date: 2012

Variant appearance in text: RET: S836S

PubMed Link: 22584711

Variant Present in the following documents:

• Main text

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Genotype-phenotype correlation in multiple endocrine neoplasia type 2.

Clinics (Sao Paulo, Brazil)

Raue, Friedhelm F; Frank-Raue, Karin K

Publication Date: 2012

Variant appearance in text: RET: S836S

PubMed Link: 22584709

Variant Present in the following documents:

• Main text

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RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil)

Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA

Publication Date: 2012

Variant appearance in text: RET: S836S; rs1800862

PubMed Link: 22584707

Variant Present in the following documents:

• Main text

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