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: Ser891Ala

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: Ser891Ala

PubMed Link: 36456885

Variant Present in the following documents:

• Main text
• 12020_2022_Article_3273.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: S891A

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: S891A

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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Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.

Life (Basel, Switzerland)

Milicevic, Sara S; Krajc, Mateja M; Blatnik, Ana A; Peric, Barbara B

Publication Date: 2022-07-21

Variant appearance in text: RET: S891A

PubMed Link: 35888179

Variant Present in the following documents:

• Main text
• life-12-01091.pdf

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: S891A; rs75234356

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: RET: 2671T>G; Ser891Ala

PubMed Link: 35668420

Variant Present in the following documents:

• Main text
• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1
• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 2
• 12916_2022_Article_2375.pdf

View BVdb publication page

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Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications

Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2022-03-04

Variant appearance in text: RET: S891A; rs75234356

PubMed Link: 35246524

Variant Present in the following documents:

• 41467_2022_28648_MOESM9_ESM.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: Ser891Ala

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

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: S891A

PubMed Link: 34981673

Variant Present in the following documents:

• MGG3-10-e1864.pdf

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: S891A

PubMed Link: 34981673

Variant Present in the following documents:

• MGG3-10-e1864.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: S891A

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: S891A

PubMed Link: 34207842

Variant Present in the following documents:

• biomolecules-11-00860.pdf

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: S891A

PubMed Link: 34154310

Variant Present in the following documents:

• Main text
• enm-2021-1082.pdf

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: S891A

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

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: MEN2B: S891A

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

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: MEN2B: 2671T>G

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: Ser891Ala

PubMed Link: 33150251

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Profile of Medullary Thyroid Carcinoma: Audit from a Tertiary Care Center in South India.

Indian Journal Of Endocrinology And Metabolism

Manjunath, P R PR; Vadayath, Usha Menon UM; Nair, Vasantha V; Pavithran, Praveen V PV; Bhavani, Nisha N; Kumar, Harish H; Abraham, Nithya N; Menon, Arun S AS; Narayanan, Prem P

Publication Date: 2020

Variant appearance in text: MEN2B: S891A

PubMed Link: 33088760

Variant Present in the following documents:

• IJEM-24-355.pdf

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: RET: 2671T>G; Ser891Ala; rs75234356

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

---

Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations

Journal Of Clinical Research In Pediatric Endocrinology

Demir Gündoğan, Begümhan B; Sağcan, Fatih F; Tuğ Bozdoğan, Sevcan S; Balcı, Yüksel Y; Tuncel Daloğlu, Ferah F; Çağlar Çıtak, Elvan E

Publication Date: 2021-08-23

Variant appearance in text: RET: 2671T>G

PubMed Link: 32702947

Variant Present in the following documents:

• Main text
• JCRPE-13-342.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: RET: 2671T>G; Ser891Ala

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

---

Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics

Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z

Publication Date: 2021-05-20

Variant appearance in text: RET: S891A

PubMed Link: 32510566

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: S891A

PubMed Link: 32411094

Variant Present in the following documents:

• Main text

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: S891A

PubMed Link: 32396246

Variant Present in the following documents:

• FSB2-34-9180-s009.xls, sheet 3

View BVdb publication page

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Genetic testing in endocrine surgery: Opportunities for precision surgery.

Surgery

Alobuia, Wilson W; Annes, Justin J; Kebebew, Electron E

Publication Date: 2020-08

Variant appearance in text: RET: S891A

PubMed Link: 32376047

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Endocrine Connections

Larsen, Louise Vølund LV; Mirebeau-Prunier, Delphine D; Imai, Tsuneo T; Alvarez-Escola, Cristina C; Hasse-Lazar, Kornelia K; Censi, Simona S; Castroneves, Luciana A LA; Sakurai, Akihiro A; Kihara, Minoru M; Horiuchi, Kiyomi K; Barbu, Véronique Dorine VD; Borson-Chazot, Francoise F; Gimenez-Roqueplo, Anne-Paule AP; Pigny, Pascal P; Pinson, Stephane S; Wohllk, Nelson N; Eng, Charis C; Aydogan, Berna Imge BI; Saranath, Dhananjaya D; Dvorakova, Sarka S; Castinetti, Frederic F; Patocs, Attila A; Bergant, Damijan D; Links, Thera P TP; Peczkowska, Mariola M; Hoff, Ana O AO; Mian, Caterina C; Dwight, Trisha T; Jarzab, Barbara B; Neumann, Hartmut P H HPH; Robledo, Mercedes M; Uchino, Shinya S; Barlier, Anne A; Godballe, Christian C; Mathiesen, Jes Sloth JS

Publication Date: 2020-06

Variant appearance in text: RET: S891A

PubMed Link: 32375120

Variant Present in the following documents:

• Main text
• EC-20-0163.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: S891A

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: S891A

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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State-of-the-Art Strategies for Targeting RET-Dependent Cancers.

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

Subbiah, Vivek V; Yang, Dong D; Velcheti, Vamsidhar V; Drilon, Alexander A; Meric-Bernstam, Funda F

Publication Date: 2020-04-10

Variant appearance in text: RET: S891A

PubMed Link: 32083997

Variant Present in the following documents:

• Main text

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: S891A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

Iscience

Ciampi, Raffaele R; Romei, Cristina C; Ramone, Teresa T; Prete, Alessandro A; Tacito, Alessia A; Cappagli, Virginia V; Bottici, Valeria V; Viola, David D; Torregrossa, Liborio L; Ugolini, Clara C; Basolo, Fulvio F; Elisei, Rossella R

Publication Date: 2019-10-25

Variant appearance in text: RET: S891A

PubMed Link: 31605946

Variant Present in the following documents:

• Main text

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: S891A

PubMed Link: 31597347

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: S891A

PubMed Link: 31510104

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S891A

PubMed Link: 31497246

Variant Present in the following documents:

• oncotarget-10-5152-s001.pdf

View BVdb publication page

---

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: 2671T>G; S891A

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: S891A

PubMed Link: 31399568

Variant Present in the following documents:

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

View BVdb publication page

---

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: HSCR1: S891A

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: S891A

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

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RET: 2671T>G; Ser891Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: S891A

PubMed Link: 30763276

Variant Present in the following documents:

• Main text
• EC-18-0506.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: RET: S891A; rs75234356

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: S891A

PubMed Link: 30624503

Variant Present in the following documents:

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

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: RET: Ser891Ala

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocrine Connections

Qi, Xiao-Ping XP; Peng, Jian-Zhong JZ; Yang, Xiao-Wei XW; Zao, Zhi-Li ZL; Yu, Xiu-Hua XH; Fang, Xu-Dong XD; Zhang, Da-Hong DH; Zhao, Jian-Qiang JQ

Publication Date: 2018-09-01

Variant appearance in text: RET: S891A

PubMed Link: 30300539

Variant Present in the following documents:

• Main text

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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: Ser891Ala

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

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Integrative annotation and knowledge discovery of kinase post-translational modifications and cancer-associated mutations through federated protein ontologies and resources.

Scientific Reports

Huang, Liang-Chin LC; Ross, Karen E KE; Baffi, Timothy R TR; Drabkin, Harold H; Kochut, Krzysztof J KJ; Ruan, Zheng Z; D'Eustachio, Peter P; McSkimming, Daniel D; Arighi, Cecilia C; Chen, Chuming C; Natale, Darren A DA; Smith, Cynthia C; Gaudet, Pascale P; Newton, Alexandra C AC; Wu, Cathy C; Kannan, Natarajan N

Publication Date: 2018-04-25

Variant appearance in text: RET: S891A

PubMed Link: 29695735

Variant Present in the following documents:

• 41598_2018_24457_MOESM1_ESM.pdf

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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: S891A

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

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RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases.

Oncotarget

Romei, Cristina C; Ciampi, Raffaele R; Casella, Francesca F; Tacito, Alessia A; Torregrossa, Liborio L; Ugolini, Clara C; Basolo, Fulvio F; Materazzi, Gabriele G; Vitti, Paolo P; Elisei, Rossella R

Publication Date: 2018-02-09

Variant appearance in text: RET: S891A

PubMed Link: 29515777

Variant Present in the following documents:

• Main text
• oncotarget-09-9875.pdf

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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: S891A

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

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Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes.

Nature Reviews. Clinical Oncology

Drilon, Alexander A; Hu, Zishuo I ZI; Lai, Gillianne G Y GGY; Tan, Daniel S W DSW

Publication Date: 2018-03

Variant appearance in text: RET: S891A

PubMed Link: 29134959

Variant Present in the following documents:

• Main text

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Genetic and Epigenetic of Medullary Thyroid Cancer

Iranian Biomedical Journal

Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM

Publication Date: 2018-05-01

Variant appearance in text: RET: S891A

PubMed Link: 29126344

Variant Present in the following documents:

• Main text
• IBJ-22-142.pdf

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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: S891A

PubMed Link: 28951487

Variant Present in the following documents:

• Main text
• ec-6-676.pdf

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Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu

Zhang, Xiwei X; Yan, Dangui D; Wang, Junyi J; Wan, Hanfeng H; Zhang, Yongxia Y; Zhang, Yabing Y; He, Yuqin Y; Liu, Wensheng W; Zhang, Bin B

Publication Date: 2017-06

Variant appearance in text: RET: S891A

PubMed Link: 28729773

Variant Present in the following documents:

• Main text

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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: MEN2B: 2671T>G; rs75234356

PubMed Link: 28647780

Variant Present in the following documents:

• Main text

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