Publications:

---

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: Asp631Tyr

PubMed Link: 37046785

Variant Present in the following documents:

• Main text
• cancers-15-02125.pdf

View BVdb publication page

---

High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.

Frontiers In Oncology

Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y

Publication Date: 2023

Variant appearance in text: rs377767406

PubMed Link: 36845679

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: RET: 1891G>T; D631Y

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Cancer Research

Tabata, Junya J; Nakaoku, Takashi T; Araki, Mitsugu M; Yoshino, Ryunosuke R; Kohsaka, Shinji S; Otsuka, Ayaka A; Ikegami, Masachika M; Ui, Ayako A; Kanno, Shin-Ichiro SI; Miyoshi, Keiko K; Matsumoto, Shigeyuki S; Sagae, Yukari Y; Yasui, Akira A; Sekijima, Masakazu M; Mano, Hiroyuki H; Okuno, Yasushi Y; Okamoto, Aikou A; Kohno, Takashi T

Publication Date: 2022-10-17

Variant appearance in text: RET: D631Y

PubMed Link: 36166639

Variant Present in the following documents:

• can-22-0834_supplementary_figure_s5_suppsf5.pdf

View BVdb publication page

---

EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: RET: 1891G>T; D631Y

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: RET: D631Y

PubMed Link: 35966080

Variant Present in the following documents:

• Main text
• fendo-13-921645.pdf
• Table_1.xlsx, sheet 5

View BVdb publication page

---

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: 1891G>T; Asp631Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

---

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: Asp631Tyr

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

View BVdb publication page

---

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

Genome Research

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

Publication Date: 2022-01

Variant appearance in text: RET: D631Y

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

---

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

The Korean Journal Of Internal Medicine

Lee, Ji-Young JY; Kim, Su Yeon SY; Jo, Kwan Hoon KH; Mo, Eun Yeong EY; Kim, Eun Sook ES; Kim, Hye Soo HS; Han, Je Ho JH; Moon, Sung-Dae SD

Publication Date: 2022-03

Variant appearance in text: RET: D631Y

PubMed Link: 34905813

Variant Present in the following documents:

• Main text
• kjim-2021-311.pdf

View BVdb publication page

---

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: D631Y

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Cancers

Yonamine, Masato M; Wasano, Koichiro K; Aita, Yuichi Y; Sugasawa, Takehito T; Takahashi, Katsutoshi K; Kawakami, Yasushi Y; Shimano, Hitoshi H; Nishiyama, Hiroyuki H; Hara, Hisato H; Naruse, Mitsuhide M; Okamoto, Takahiro T; Matsuda, Tadashi T; Kosugi, Shinji S; Horiguchi, Kazuhiko K; Tanabe, Akiyo A; Watanabe, Atsushi A; Kimura, Noriko N; Nakamura, Eijiro E; Sakurai, Akihiro A; Shiga, Kiyoto K; Takekoshi, Kazuhiro K

Publication Date: 2021-08-09

Variant appearance in text: RET: 1891G>T; D631Y

PubMed Link: 34439168

Variant Present in the following documents:

• Main text
• cancers-13-04014.pdf

View BVdb publication page

---

A patient with RET D631Y mutation present with pheochromocytoma.

Clinical Case Reports

Kim, Jung Min JM

Publication Date: 2021-07

Variant appearance in text: RET: 1891G>T

PubMed Link: 34267909

Variant Present in the following documents:

• Main text
• CCR3-9-e04423.pdf

View BVdb publication page

---

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: D631Y

PubMed Link: 34154310

Variant Present in the following documents:

• Main text
• enm-2021-1082.pdf

View BVdb publication page

---

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

International Journal Of Molecular Sciences

Romei, Cristina C; Elisei, Rossella R

Publication Date: 2021-02-09

Variant appearance in text: MEN2A: D631Y

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

View BVdb publication page

---

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

Nature Communications

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

Publication Date: 2021-01-04

Variant appearance in text: RET: 1891G>T; D631Y

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology

Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: RET: 1891G>T; D631Y

PubMed Link: 33362715

Variant Present in the following documents:

• Main text
• fendo-11-574662.pdf

View BVdb publication page

---

Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: RET: D631Y

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

Ancestry-specific predisposing germline variants in cancer.

Genome Medicine

Oak, Ninad N; Cherniack, Andrew D AD; Mashl, R Jay RJ; , ; Hirsch, Fred R FR; Ding, Li L; Beroukhim, Rameen R; Gümüş, Zeynep H ZH; Plon, Sharon E SE; Huang, Kuan-Lin KL

Publication Date: 2020-05-29

Variant appearance in text: RET: D631Y

PubMed Link: 32471518

Variant Present in the following documents:

• 13073_2020_744_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

---

Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

Journal Of The Endocrine Society

de Tersant, Marie M; Généré, Lucile L; Freyçon, Claire C; Villebasse, Sophie S; Abbas, Rachid R; Barlier, Anne A; Bodet, Damien D; Corradini, Nadège N; Defachelles, Anne-Sophie AS; Entz-Werle, Natacha N; Fouquet, Cyrielle C; Galmiche, Louise L; Gandemer, Virginie V; Lacour, Brigitte B; Mansuy, Ludovic L; Orbach, Daniel D; Pluchart, Claire C; Réguerre, Yves Y; Rigaud, Charlotte C; Sarnacki, Sabine S; Sirvent, Nicolas N; Stephan, Jean-Louis JL; Thebaud, Estelle E; Gimenez-Roqueplo, Anne-Paule AP; Brugières, Laurence L

Publication Date: 2020-05-01

Variant appearance in text: RET: D631Y

PubMed Link: 32432211

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D631Y

PubMed Link: 32376047

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D631Y

PubMed Link: 32375120

Variant Present in the following documents:

• Main text
• EC-20-0163.pdf

View BVdb publication page

---

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: D631Y

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

---

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: D631Y

PubMed Link: 31597347

Variant Present in the following documents:

• Main text
• cancers-11-01505.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: 1891G>T; D631Y

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1891G>T; Asp631Tyr

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

View BVdb publication page

---

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: D631Y

PubMed Link: 30349395

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Asp631Tyr

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

---

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: 1891G>T

PubMed Link: 29760189

Variant Present in the following documents:

• Main text
• ec-7-829.pdf

View BVdb publication page

---

Pathogenic Germline Variants in 10,389 Adult Cancers.

Cell

Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L

Publication Date: 2018-04-05

Variant appearance in text: RET: D631Y

PubMed Link: 29625052

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: RET: Asp631Tyr

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

---

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: Asp631Tyr

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget

Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P

Publication Date: 2017-12-12

Variant appearance in text: RET: D631Y

PubMed Link: 29312610

Variant Present in the following documents:

• Main text
• oncotarget-08-109319.pdf

View BVdb publication page

---

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: D631Y

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D631Y

PubMed Link: 28740527

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

European Thyroid Journal

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

Publication Date: 2017-04

Variant appearance in text: RET: D631Y

PubMed Link: 28589087

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1891G>T; Asp631Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

An analysis of disease-gene relationship from Medline abstracts by DigSee.

Scientific Reports

Kim, Jeongkyun J; Kim, Jung-Jae JJ; Lee, Hyunju H

Publication Date: 2017-01-05

Variant appearance in text: RET: D631Y

PubMed Link: 28054646

Variant Present in the following documents:

• srep40154-s14.xls, sheet 2

View BVdb publication page

---

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: 1891G>T

PubMed Link: 27809725

Variant Present in the following documents:

• Main text
• thy.2016.0411.pdf

View BVdb publication page

---

Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology

Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2015

Variant appearance in text: RET: D631Y

PubMed Link: 27014708

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

Journal Of Clinical Research In Pediatric Endocrinology

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

Publication Date: 2016-03-05

Variant appearance in text: RET: D631Y

PubMed Link: 26758973

Variant Present in the following documents:

• JCRPE-8-13.pdf

View BVdb publication page

---

Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer.

Plos Genetics

Ji, Jun Ho JH; Oh, Young Lyun YL; Hong, Mineui M; Yun, Jae Won JW; Lee, Hyun-Woo HW; Kim, DeokGeun D; Ji, Yongick Y; Kim, Duk-Hwan DH; Park, Woong-Yang WY; Shin, Hyun-Tae HT; Kim, Kyoung-Mee KM; Ahn, Myung-Ju MJ; Park, Keunchil K; Sun, Jong-Mu JM

Publication Date: 2015-08

Variant appearance in text: RET: D631Y

PubMed Link: 26295973

Variant Present in the following documents:

• Main text
• pgen.1005467.s002.xls, sheet 1
• pgen.1005467.pdf

View BVdb publication page

---

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: D631Y

PubMed Link: 25810047

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer

Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP

Publication Date: 2015-02

Variant appearance in text: RET: D631Y

PubMed Link: 25425582

Variant Present in the following documents:

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

View BVdb publication page

---

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

Plos One

Crona, Joakim J; Nordling, Margareta M; Maharjan, Rajani R; Granberg, Dan D; Stålberg, Peter P; Hellman, Per P; Björklund, Peyman P

Publication Date: 2014

Variant appearance in text: RET: 1891G>T; Asp631Tyr

PubMed Link: 24466223

Variant Present in the following documents:

• Main text
• pone.0086756.pdf

View BVdb publication page

---

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT

Publication Date: 2007-04

Variant appearance in text: RET: D631Y

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

---