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: Cys620Arg

PubMed Link: 37046785

Variant Present in the following documents:

• Main text
• cancers-15-02125.pdf

View BVdb publication page

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Machine learning driven drug repurposing strategy for identification of potential RET inhibitors against non-small cell lung cancer.

Medical Oncology (Northwood, London, England)

Ramesh, Priyanka P; Karuppasamy, Ramanathan R; Veerappapillai, Shanthi S

Publication Date: 2022-12-21

Variant appearance in text: RET: C620R

PubMed Link: 36542155

Variant Present in the following documents:

• Main text
• 12032_2022_Article_1924.pdf

View BVdb publication page

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A single RET mutation in Hirschsprung disease induces intestinal aganglionosis via a dominant-negative mechanism.

Cellular And Molecular Gastroenterology And Hepatology

Sunardi, Mukhamad M; Ito, Keisuke K; Sato, Yuya Y; Uesaka, Toshihiro T; Iwasaki, Mitsuhiro M; Enomoto, Hideki H

Publication Date: 2022-12-12

Variant appearance in text: RET: C620R

PubMed Link: 36521661

Variant Present in the following documents:

• Main text
• main.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: C620R

PubMed Link: 36344509

Variant Present in the following documents:

• 41421_2022_479_MOESM2_ESM.xlsx, sheet 1
• 41421_2022_479_MOESM4_ESM.xlsx, sheet 2

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: N/A

PubMed Link: 35865963

Variant Present in the following documents:

View BVdb publication page

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Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children.

Jama Oncology

Gallant, Jean-Nicolas JN; Chen, Sheau-Chiann SC; Ortega, Carlos A CA; Rohde, Sarah L SL; Belcher, Ryan H RH; Netterville, James L JL; Baregamian, Naira N; Wang, Huiying H; Liang, Jiancong J; Ye, Fei F; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Weiss, Vivian L VL

Publication Date: 2022-09-01

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 35679040

Variant Present in the following documents:

• jamaoncol-e221655-s001.pdf

View BVdb publication page

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The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Aims Neuroscience

Bhattarai, Chacchu C; Poudel, Phanindra Prasad PP; Ghosh, Arnab A; Kalthur, Sneha Guruprasad SG

Publication Date: 2022

Variant appearance in text: RET: C620R

PubMed Link: 35434281

Variant Present in the following documents:

• Main text
• neurosci-09-01-008.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: RET: 1858T>C; Cys620Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung's disease.

Oxford Medical Case Reports

Johns, Allison M AM; Vuong, Angela H AH; Hassan, Omer A OA; Randle, Reese W RW; Gorris, Matthew A MA

Publication Date: 2021

Variant appearance in text: RET: Cys620Arg

PubMed Link: 34987852

Variant Present in the following documents:

• Main text
• omab122.pdf

View BVdb publication page

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Systematic population-based identification of NTRK and RET fusion-positive thyroid cancers.

European Thyroid Journal

Eszlinger, Markus M; Stewardson, Paul P; McIntyre, John B JB; Box, Adrian A; Khalil, Moosa M; Hyrcza, Martin M; Koro, Konstantin K; Ruether, Dean D; Wu, Jiahui J; Paschke, Ralf R

Publication Date: 2022-01-27

Variant appearance in text: RET: C620R

PubMed Link: 34981751

Variant Present in the following documents:

• Main text
• ETJ-21-0061.pdf

View BVdb publication page

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: RET: 1858T>C; Cys620Arg

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: C620R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Breast metastasis from medullary thyroid carcinoma: a report of a case.

Surgical Case Reports

Omi, Yoko Y; Kamio, Hidenori H; Yoshida, Yusaku Y; Masui, Kenta K; Yamamoto, Tomoko T; Nagashima, Yoji Y; Okamoto, Takahiro T

Publication Date: 2021-08-19

Variant appearance in text: RET: 1858T>C

PubMed Link: 34410532

Variant Present in the following documents:

• 40792_2021_Article_1273.pdf

View BVdb publication page

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Increased RET Activity Coupled with a Reduction in the RET Gene Dosage Causes Intestinal Aganglionosis in Mice.

Eneuro

Okamoto, Mitsumasa M; Uesaka, Toshihiro T; Ito, Keisuke K; Enomoto, Hideki H

Publication Date: 2021

Variant appearance in text: RET: C620R

PubMed Link: 33958373

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: C620R

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A.

Frontiers In Endocrinology

Würgler Hansen, Anders A; Sønderberg Roos, Laura Kirstine LK; Løssl, Kristine K; Godballe, Christian C; Mathiesen, Jes Sloth JS

Publication Date: 2020

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 33178136

Variant Present in the following documents:

• Main text
• fendo-11-572151.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs77316810

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X

Publication Date: 2018-09

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

View BVdb publication page

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

Science Advances

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

Publication Date: 2020-07

Variant appearance in text: RET: 1858T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: 1858T>C; Cys620Arg

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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The Afirma Xpression Atlas for thyroid nodules and thyroid cancer metastases: Insights to inform clinical decision-making from a fine-needle aspiration sample.

Cancer Cytopathology

Krane, Jeffrey F JF; Cibas, Edmund S ES; Endo, Mayumi M; Marqusee, Ellen E; Hu, Mimi I MI; Nasr, Christian E CE; Waguespack, Steven G SG; Wirth, Lori J LJ; Kloos, Richard T RT

Publication Date: 2020-07

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 32543766

Variant Present in the following documents:

• Main text
• CNCY-128-452.pdf

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: C620R

PubMed Link: 32375120

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: C620R

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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The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Genome Medicine

Adashek, Jacob J JJ; Kato, Shumei S; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2020-02-17

Variant appearance in text: RET: C620R

PubMed Link: 32066498

Variant Present in the following documents:

• Main text
• 13073_2020_Article_714.pdf

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: RET: Cys620Arg

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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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: C620R

PubMed Link: 31605946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long-Term Oncologic Outcomes After Curative Resection of Familial Medullary Thyroid Carcinoma.

Annals Of Surgical Oncology

Spanheimer, Philip M PM; Ganly, Ian I; Chou, Joanne J; Capanu, Marinela M; Ghossein, Ronald A RA; Tuttle, R Michael RM; Wong, Richard J RJ; Shaha, Ashok R AR; Untch, Brian R BR

Publication Date: 2019-12

Variant appearance in text: RET: C620R

PubMed Link: 31549322

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: C620R

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.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: 1858T>C; C620R

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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Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Jama Network Open

Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,

Publication Date: 2019-08-02

Variant appearance in text: RET: 1858T>C; Cys620Arg

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

View BVdb publication page

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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: 1858T>C; Cys620Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: 1858T>C; Cys620Arg

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: RET: C620R

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: C620R

PubMed Link: 30666164

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: C620R

PubMed Link: 30618340

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study.

Endocrine Connections

Mathiesen, Jes Sloth JS; Kroustrup, Jens Peter JP; Vestergaard, Peter P; 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; Godballe, Christian C

Publication Date: 2019-01-01

Variant appearance in text: RET: C620R

PubMed Link: 30550378

Variant Present in the following documents:

• Main text
• EC-18-0494.pdf

View BVdb publication page

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Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: 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; 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: 2018

Variant appearance in text: RET: C620R

PubMed Link: 30349395

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology

Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC

Publication Date: 2018-10

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM2_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 4
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 3
• 428_2018_2411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.

Frontiers In Endocrinology

Paragliola, Rosa M RM; Lovicu, Rosa M RM; Papi, Giampaolo G; Capoluongo, Ettore E; Minucci, Angelo A; Canu, Giulia G; Pontecorvi, Alfredo A; Corsello, Salvatore M SM

Publication Date: 2018

Variant appearance in text: RET: C620R

PubMed Link: 30072953

Variant Present in the following documents:

• Main text
• fendo-09-00398.pdf

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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: Cys620Arg

PubMed Link: 30013307

Variant Present in the following documents:

• Main text

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Over-diagnosis of potential malignant behavior in MEN 2A-associated pheochromocytomas using the PASS and GAPP algorithms.

Langenbeck'S Archives Of Surgery

Stenman, Adam A; Zedenius, Jan J; Juhlin, Carl Christofer CC

Publication Date: 2018-09

Variant appearance in text: RET: 1858T>C

PubMed Link: 29779047

Variant Present in the following documents:

• Main text

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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: 1858T>C

PubMed Link: 29760189

Variant Present in the following documents:

• Main text
• ec-7-829.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: Cys620Arg

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

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

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

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

Publication Date: 2017

Variant appearance in text: RET: C620R

PubMed Link: 28740527

Variant Present in the following documents:

• Main text

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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: 1858T>C; Cys620Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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

Plos One

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

Publication Date: 2017

Variant appearance in text: MEN2A: C620R

PubMed Link: 28542371

Variant Present in the following documents:

• pone.0178169.s009.xlsx, sheet 3

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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Genome Biology

Gui, Hongsheng H; Schriemer, Duco D; Cheng, William W WW; Chauhan, Rajendra K RK; Antiňolo, Guillermo G; Berrios, Courtney C; Bleda, Marta M; Brooks, Alice S AS; Brouwer, Rutger W W RW; Burns, Alan J AJ; Cherny, Stacey S SS; Dopazo, Joaquin J; Eggen, Bart J L BJ; Griseri, Paola P; Jalloh, Binta B; Le, Thuy-Linh TL; Lui, Vincent C H VC; Luzón-Toro, Berta B; Matera, Ivana I; Ngan, Elly S W ES; Pelet, Anna A; Ruiz-Ferrer, Macarena M; Sham, Pak C PC; Shepherd, Iain T IT; So, Man-Ting MT; Sribudiani, Yunia Y; Tang, Clara S M CS; van den Hout, Mirjam C G N MC; van der Linde, Herma C HC; van Ham, Tjakko J TJ; van IJcken, Wilfred F J WF; Verheij, Joke B G M JB; Amiel, Jeanne J; Borrego, Salud S; Ceccherini, Isabella I; Chakravarti, Aravinda A; Lyonnet, Stanislas S; Tam, Paul K H PK; Garcia-Barceló, Maria-Mercè MM; Hofstra, Robert M W RM

Publication Date: 2017-03-08

Variant appearance in text: RET: C620R; rs77316810

PubMed Link: 28274275

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1174.pdf

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: RET: 1858T>C; C620R

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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

Thyroid : Official Journal Of The American Thyroid Association

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

Publication Date: 2017-02

Variant appearance in text: RET: 1858T>C

PubMed Link: 27809725

Variant Present in the following documents:

• Main text

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CRISPR/Cas9 Targets Chicken Embryonic Somatic Cells In Vitro and In Vivo and generates Phenotypic Abnormalities.

Scientific Reports

Abu-Bonsrah, Kwaku Dad KD; Zhang, Dongcheng D; Newgreen, Donald F DF

Publication Date: 2016-10-03

Variant appearance in text: MEN2A: C620R

PubMed Link: 27694906

Variant Present in the following documents:

• Main text

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