Publications:

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

Biomedicines

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

Publication Date: 2023-04-02

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 37189693

Variant Present in the following documents:

• Main text
• biomedicines-11-01075.pdf

View BVdb publication page

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Association between vascular ultrasound features and DNA sequencing in breast cancer: a preliminary study.

Discover. Oncology

Han, Mi-Ryung MR; Park, Ah Young AY; Seo, Bo Kyoung BK; Bae, Min Sun MS; Kim, Jung Sun JS; Son, Gil Soo GS; Lee, Hye Yoon HY; Chang, Young Woo YW; Cho, Kyu Ran KR; Song, Sung Eun SE; Woo, Ok Hee OH; Ju, Hye-Yeon HY; Oh, Hyunseung H

Publication Date: 2023-04-30

Variant appearance in text: rs1799939

PubMed Link: 37120792

Variant Present in the following documents:

• Main text
• 12672_2023_Article_657.pdf

View BVdb publication page

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Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Scientific Reports

Quinn, Leonard M LM; Haldenby, Sam S; Antzcak, Philip P; Fowler, Anna A; Bullock, Katie K; Kenny, John J; Gilbert, Timothy T; Andrews, Timothy T; Diaz-Nieto, Rafael R; Fenwick, Stephen S; Jones, Robert R; Costello-Goldring, Eithne E; Poston, Graeme G; Greenhalf, William W; Palmer, Daniel D; Malik, Hassan H; Goldring, Chris C

Publication Date: 2023-04-24

Variant appearance in text: RET: 2071G>A; Gly691Ser

PubMed Link: 37095160

Variant Present in the following documents:

• 41598_2023_33096_MOESM2_ESM.pdf

View BVdb publication page

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Successful treatment of mucosal neuromas by radiofrequency ablation in a patient with multiple endocrine neoplasia type 2B.

Skin Health And Disease

Escalante, Luis L; Granizo-Rubio, Jennyfer J; Ortiz-Prado, Esteban E; Pinos-León, Víctor V; Maldonado, Astrid A; Chandler, David D

Publication Date: 2023-04

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 37013117

Variant Present in the following documents:

• Main text
• SKI2-3-e146.pdf

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.

Genes

Nassar, Auhood A; Zekri, Abdel-Rahman N AN; Kamel, Mahmoud M MM; Elberry, Mostafa H MH; Lotfy, Mai M MM; Seadawy, Mohamed G MG; Hassan, Zeinab K ZK; Soliman, Hany K HK; Lymona, Ahmed M AM; Youssef, Amira Salah El-Din ASE

Publication Date: 2022-12-29

Variant appearance in text: rs1799939

PubMed Link: 36672847

Variant Present in the following documents:

• genes-14-00106.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1799939

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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

Ejhaem

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

Publication Date: 2022-11

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.

Plos One

Bartik, Zsuzsa I ZI; Sillén, Ulla U; Djos, Anna A; Lindholm, Anna A; Fransson, Susanne S

Publication Date: 2022

Variant appearance in text: RET: Gly691Ser

PubMed Link: 36417404

Variant Present in the following documents:

• pone.0277524.pdf

View BVdb publication page

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CRISPR/Cas9 RET Gene Knockout in Medullary Thyroid Carcinoma Cell-lines: Optimization and Validation.

Iranian Journal Of Public Health

Zarif-Yeganeh, Marjan M; Farhud, Dariush D DD; Rahimpour, Azam A; Sheikholeslami, Sara S; Shivaei, Setareh S; Hedayati, Mehdi M

Publication Date: 2022-05

Variant appearance in text: RET: G691S

PubMed Link: 36407731

Variant Present in the following documents:

• IJPH-51-1084.pdf

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: RET: 2071G>A; G691S

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Hereditary variants of unknown significance in African American women with breast cancer.

Plos One

McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ

Publication Date: 2022

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 36315513

Variant Present in the following documents:

• pone.0273835.s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: RET: G691S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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The Role of Neural Signaling in the Pancreatic Cancer Microenvironment.

Cancers

Takahashi, Ryota R; Ijichi, Hideaki H; Fujishiro, Mitsuhiro M

Publication Date: 2022-08-31

Variant appearance in text: RET: G691S

PubMed Link: 36077804

Variant Present in the following documents:

• Main text
• cancers-14-04269.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A Genomically and Clinically Annotated Patient-Derived Xenograft Resource for Preclinical Research in Non-Small Cell Lung Cancer.

Cancer Research

Woo, Xing Yi XY; Srivastava, Anuj A; Mack, Philip C PC; Graber, Joel H JH; Sanderson, Brian J BJ; Lloyd, Michael W MW; Chen, Mandy M; Domanskyi, Sergii S; Gandour-Edwards, Regina R; Tsai, Rebekah A RA; Keck, James J; Cheng, Mingshan M; Bundy, Margaret M; Jocoy, Emily L EL; Riess, Jonathan W JW; Holland, William W; Grubb, Stephen C SC; Peterson, James G JG; Stafford, Grace A GA; Paisie, Carolyn C; Neuhauser, Steven B SB; Karuturi, R Krishna Murthy RKM; George, Joshy J; Simons, Allen K AK; Chavaree, Margaret M; Tepper, Clifford G CG; Goodwin, Neal N; Airhart, Susan D SD; Lara, Primo N PN; Openshaw, Thomas H TH; Liu, Edison T ET; Gandara, David R DR; Bult, Carol J CJ

Publication Date: 2022-11-15

Variant appearance in text: RET: G691S

PubMed Link: 36069866

Variant Present in the following documents:

• can-22-0948_table_s1_suppst1.xlsx, sheet 1

View BVdb publication page

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A Case of 123I-Metaiodobenzylguanidine Scintigraphy-Negative Pheochromocytoma with a Tumor-Developing Mutation in the RET Gene.

Journal Of Clinical Medicine

Kubo, Haremaru H; Tsurutani, Yuya Y; Sunouchi, Takashi T; Hoshino, Yoshitomo Y; Hirose, Rei R; Katsuragawa, Sho S; Kimura, Noriko N; Saito, Jun J; Nishikawa, Tetsuo T

Publication Date: 2022-08-08

Variant appearance in text: RET: 2071G>A

PubMed Link: 35956242

Variant Present in the following documents:

• Main text
• jcm-11-04624.pdf

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: RET: 2071G>A; Gly691Ser; rs1799939

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: G691S; rs1799939

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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

Cancers

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

Publication Date: 2022-04-13

Variant appearance in text: RET: Gly691Ser; rs1799939

PubMed Link: 35454858

Variant Present in the following documents:

• Main text
• cancers-14-01951.pdf

View BVdb publication page

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Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.

Bmc Cancer

Kamai, Takao T; Murakami, Satoshi S; Arai, Kyoko K; Nishihara, Daisaku D; Uematsu, Toshitaka T; Ishida, Kazuyuki K; Kijima, Toshiki T

Publication Date: 2022-03-18

Variant appearance in text: RET: Gly691Ser; rs1799939

PubMed Link: 35300626

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9415.pdf

View BVdb publication page

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

Journal Of Cancer Research And Clinical Oncology

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

Publication Date: 2022-03-05

Variant appearance in text: RET: 2071G>A; Gly691Ser; rs1799939

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Emerging Biomarkers in Thyroid Practice and Research.

Cancers

Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK

Publication Date: 2021-12-31

Variant appearance in text: rs1799939

PubMed Link: 35008368

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging Biomarkers in Thyroid Practice and Research.

Cancers

Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK

Publication Date: 2021-12-31

Variant appearance in text: rs1799939

PubMed Link: 35008368

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-01-03

Variant appearance in text: RET: 2071G>A; rs1799939

PubMed Link: 34981673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distribution of RET proto-oncogene variants in children with appendicitis.

Molecular Genetics & Genomic Medicine

Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G

Publication Date: 2022-02

Variant appearance in text: RET: 2071G>A; rs1799939

PubMed Link: 34981673

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Journal Of Oncology

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

Publication Date: 2021

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 34950210

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G691S

PubMed Link: 34905813

Variant Present in the following documents:

• kjim-2021-311.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: RET: G691S

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology

Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS

Publication Date: 2021-11-17

Variant appearance in text: RET: 2071G>A; Gly691Ser; rs1799939

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology

Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS

Publication Date: 2022-01

Variant appearance in text: RET: 2071G>A; Gly691Ser; rs1799939

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant.

Journal Of Thyroid Research

Damavandi, Elia E; Vand-Rajabpour, Fatemeh F; Javadi-Arjmand, Maliheh M; Mohajeri Tehrani, Mohammad-Reza MR; Larijani, Bagher B; Kabuli, Majid M; Ghadami, Mohsen M

Publication Date: 2021

Variant appearance in text: MEN2A: G691S

PubMed Link: 34777782

Variant Present in the following documents:

• Main text

View BVdb publication page

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

International Journal Of Molecular Sciences

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

Publication Date: 2021-10-30

Variant appearance in text: RET: 2071G>A; rs1799939

PubMed Link: 34769224

Variant Present in the following documents:

• Main text
• ijms-22-11794.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Prognostic and Clinicopathological Value of Ki-67 in Melanoma: A Meta-Analysis.

Frontiers In Oncology

Liu, Qixin Q; Peng, Ziheng Z; Shen, Liangfang L; Shen, Lin L

Publication Date: 2021

Variant appearance in text: RET: G691S

PubMed Link: 34568073

Variant Present in the following documents:

• fonc-11-737760.pdf

View BVdb publication page

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Unique somatic variants in DNA from urine exosomes of individuals with bladder cancer.

Molecular Therapy. Methods & Clinical Development

Zhou, Xunian X; Kurywchak, Paul P; Wolf-Dennen, Kerri K; Che, Sara P Y SPY; Sulakhe, Dinanath D; D'Souza, Mark M; Xie, Bingqing B; Maltsev, Natalia N; Gilliam, T Conrad TC; Wu, Chia-Chin CC; McAndrews, Kathleen M KM; LeBleu, Valerie S VS; McConkey, David J DJ; Volpert, Olga V OV; Pretzsch, Shanna M SM; Czerniak, Bogdan A BA; Dinney, Colin P CP; Kalluri, Raghu R

Publication Date: 2021-09-10

Variant appearance in text: rs1799939

PubMed Link: 34514028

Variant Present in the following documents:

• mmc3.pdf

View BVdb publication page

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Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach.

Frontiers In Medicine

Granata, Simona S; Bruschi, Maurizio M; Deiana, Michela M; Petretto, Andrea A; Lombardi, Gianmarco G; Verlato, Alberto A; Elia, Rossella R; Candiano, Giovanni G; Malerba, Giovanni G; Gambaro, Giovanni G; Zaza, Gianluigi G

Publication Date: 2021

Variant appearance in text: RET: G691S

PubMed Link: 34124100

Variant Present in the following documents:

• fmed-08-671798.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: RET: 2071G>A; Gly691Ser; rs1799939

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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

Croatian Medical Journal

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

Publication Date: 2021-04-30

Variant appearance in text: RET: G691S

PubMed Link: 33938650

Variant Present in the following documents:

• Main text

View BVdb publication page

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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences

Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK

Publication Date: 2021-04-09

Variant appearance in text: RET: 2071G>A; Gly691Ser

PubMed Link: 33918692

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: G691S; rs1799939

PubMed Link: 33827484

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparing Oxidative Stress Status Among Iranian Males and Females with Malignant and Non-malignant Thyroid Nodules.

International Journal Of Endocrinology And Metabolism

Faam, Bita B; Ghadiri, Ata A AA; Ghaffari, Mohammad Ali MA; Totonchi, Mehdi M; Khorsandi, Layasadat L

Publication Date: 2021-01

Variant appearance in text: RET: G691S

PubMed Link: 33815516

Variant Present in the following documents:

• ijem-19-1-105669.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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The emerging clinical relevance of genomic profiling in neuroendocrine tumours.

Bmc Cancer

Burak, Guney Isa GI; Ozge, Sonmezler S; Cem, Mujde M; Gulgun, Buyukdereli B; Zeynep, Dogruca Yapar DY; Atil, Bisgin B

Publication Date: 2021-03-06

Variant appearance in text: RET: G691S

PubMed Link: 33676450

Variant Present in the following documents:

• Main text

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: RET: 2071G>A; Gly691Ser; rs1799939

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Understanding protein structural changes for oncogenic missense variants.

Heliyon

Hernandez, Rolando R; Facelli, Julio C JC

Publication Date: 2021-01

Variant appearance in text: RET: Gly691Ser

PubMed Link: 33553733

Variant Present in the following documents:

• Main text
• main.pdf

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: RET: 2071G>A; G691S; rs1799939

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: 2071G>A; G691S

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Post-radiation circulating tumor DNA as a prognostic factor in locally advanced esophageal squamous cell carcinoma.

Oncology Letters

Jia, Ru R; Zhao, Chuan-Hua CH; Li, Pan-Song PS; Liu, Rong-Rui RR; Zhang, Yun Y; Chen, Hai-E HE; Chang, Lian-Peng LP; Gong, Yu-Hua YH; Guan, Yan-Fang YF; Yi, Xin X; Xu, Jian-Ming JM

Publication Date: 2021-01

Variant appearance in text: RET: 2071G>A; G691S

PubMed Link: 33365079

Variant Present in the following documents:

• Supplementary_Data3.xlsx, sheet 1

View BVdb publication page

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Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.

Kidney International Reports

Izzi, Claudia C; Dordoni, Chiara C; Econimo, Laura L; Delbarba, Elisa E; Grati, Francesca Romana FR; Martin, Eva E; Mazza, Cinzia C; Savoldi, Gianfranco G; Rampoldi, Luca L; Alberici, Federico F; Scolari, Francesco F

Publication Date: 2020-12

Variant appearance in text: RET: G691S

PubMed Link: 33305128

Variant Present in the following documents:

• main.pdf

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: RET: 2071G>A; G691S; rs1799939

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: RET: 2071G>A; G691S; rs1799939

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current status of the prognostic molecular markers in medullary thyroid carcinoma.

Endocrine Connections

Oczko-Wojciechowska, Malgorzata M; Czarniecka, Agnieszka A; Gawlik, Tomasz T; Jarzab, Barbara B; Krajewska, Jolanta J

Publication Date: 2020-12

Variant appearance in text: RET: G691S

PubMed Link: 33112827

Variant Present in the following documents:

• Main text
• EC-20-0374.pdf

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The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine

Yang, Zheng Z; Qi, Xinmeng X; Gross, Neil N; Kou, Xiujuan X; Bai, Yunlong Y; Feng, Yaru Y; Wang, Bochun B; Zafereo, Mark E ME; Li, Guojun G; Sun, Chuanzheng C; Li, Huihui H; Chen, Xiaohong X; Huang, Zhigang Z

Publication Date: 2020-11

Variant appearance in text: RET: G691S

PubMed Link: 32989896

Variant Present in the following documents:

• JCMM-24-13163.pdf

View BVdb publication page

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Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer

Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D

Publication Date: 2020-08

Variant appearance in text: RET: 2071G>A; G691S; rs1799939

PubMed Link: 32908788

Variant Present in the following documents:

• jbc-23-373-s004.xls, sheet 1

View BVdb publication page

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Genomic characterization of malignant progression in neoplastic pancreatic cysts.

Nature Communications

Noë, Michaël M; Niknafs, Noushin N; Fischer, Catherine G CG; Hackeng, Wenzel M WM; Beleva Guthrie, Violeta V; Hosoda, Waki W; Debeljak, Marija M; Papp, Eniko E; Adleff, Vilmos V; White, James R JR; Luchini, Claudio C; Pea, Antonio A; Scarpa, Aldo A; Butturini, Giovanni G; Zamboni, Giuseppe G; Castelli, Paola P; Hong, Seung-Mo SM; Yachida, Shinichi S; Hiraoka, Nobuyoshi N; Gill, Anthony J AJ; Samra, Jaswinder S JS; Offerhaus, G Johan A GJA; Hoorens, Anne A; Verheij, Joanne J; Jansen, Casper C; Adsay, N Volkan NV; Jiang, Wei W; Winter, Jordan J; Albores-Saavedra, Jorge J; Terris, Benoit B; Thompson, Elizabeth D ED; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Karchin, Rachel R; Scharpf, Robert B RB; Brosens, Lodewijk A A LAA; Velculescu, Victor E VE; Wood, Laura D LD

Publication Date: 2020-08-14

Variant appearance in text: RET: G691S

PubMed Link: 32796935

Variant Present in the following documents:

• 41467_2020_17917_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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

Cancers

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

Publication Date: 2020-07-21

Variant appearance in text: rs1799939

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

View BVdb publication page

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Primary pulmonary paraganglioma: Two cases.

Turk Gogus Kalp Damar Cerrahisi Dergisi

Yüksel, Cabir C; Kocaman, Gökhan G; Yenigün, Bülent Mustafa BM; Özakıncı, Hilal H; Dizbay Sak, Serpil S; Enön, Serkan S; Kutlay, Hakan H

Publication Date: 2019-06

Variant appearance in text: RET: 2071G>A; G691S

PubMed Link: 32551175

Variant Present in the following documents:

• Main text

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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

Asian Pacific Journal Of Cancer Prevention : Apjcp

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

Publication Date: 2020-05-01

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 32458635

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Frontiers In Endocrinology

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

Publication Date: 2020

Variant appearance in text: RET: G691S; rs1799939

PubMed Link: 32411094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oncogenic and drug-sensitive RET mutations in human epithelial ovarian cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Guan, Luyao L; Li, Zhang Z; Xie, Feifei F; Pang, Yuzhi Y; Zhang, Chenyun C; Tang, Haosha H; Zhang, Hao H; Chen, Chun C; Zhan, Yaying Y; Zhao, Ting T; Jiang, Hongyuan H; Jia, Xiaona X; Wang, Yuexiang Y; Lu, Yuan Y

Publication Date: 2020-03-23

Variant appearance in text: RET: G691S

PubMed Link: 32293499

Variant Present in the following documents:

• Main text
• 13046_2020_Article_1557.pdf

View BVdb publication page

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