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: S904S

PubMed Link: 37189693

Variant Present in the following documents:

• Main text
• biomedicines-11-01075.pdf

View BVdb publication page

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Genomic profiles of Indonesian colorectal cancer patients.

F1000Research

Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF

Publication Date: 2022

Variant appearance in text: RET: S904S

PubMed Link: 37125020

Variant Present in the following documents:

• Main text
• f1000research-11-144370.pdf

View BVdb publication page

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

Ejhaem

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

Publication Date: 2022-11

Variant appearance in text: N/A

PubMed Link: 36467812

Variant Present in the following documents:

View BVdb publication page

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Dental DNA as an Indicator of Post-Mortem Interval (PMI): A Pilot Research.

International Journal Of Molecular Sciences

Bianchi, Ilenia I; Grassi, Simone S; Castiglione, Francesca F; Bartoli, Caterina C; De Saint Pierre, Bianca B; Focardi, Martina M; Oliva, Antonio A; Pinchi, Vilma V

Publication Date: 2022-10-25

Variant appearance in text: RET: 2712C>G

PubMed Link: 36361687

Variant Present in the following documents:

• ijms-23-12896.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: N/A

PubMed Link: 36269797

Variant Present in the following documents:

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: S904S

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

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Genomic Landscape Alterations in Primary Tumor and Matched Lymph Node Metastasis in Hormone-Naïve Prostate Cancer Patients.

Cancers

Russo, Giorgio Ivan GI; Bonacci, Paolo P; Bivona, Dalida D; Privitera, Grete Francesca GF; Broggi, Giuseppe G; Caltabiano, Rosario R; Vella, Jessica J; Lo Giudice, Arturo A; Asmundo, Maria Giovanna MG; Cimino, Sebastiano S; Morgia, Giuseppe G; Stefani, Stefania S; Musso, Nicolò N

Publication Date: 2022-08-30

Variant appearance in text: rs1800863

PubMed Link: 36077746

Variant Present in the following documents:

• Main text
• cancers-14-04212.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: N/A

PubMed Link: 36075891

Variant Present in the following documents:

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: N/A

PubMed Link: 35899134

Variant Present in the following documents:

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: 2712C>G; rs1800863

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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The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Cells

Richter, Anna A; Roolf, Catrin C; Sekora, Anett A; Knuebel, Gudrun G; Krohn, Saskia S; Lange, Sandra S; Krebs, Vivien V; Schneider, Bjoern B; Lakner, Johannes J; Wittke, Christoph C; Kiefel, Christoph C; Jeremias, Irmela I; Murua Escobar, Hugo H; Vollmar, Brigitte B; Junghanss, Christian C

Publication Date: 2022-01-03

Variant appearance in text: RET: 2712C>G

PubMed Link: 35011712

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Cells

Richter, Anna A; Roolf, Catrin C; Sekora, Anett A; Knuebel, Gudrun G; Krohn, Saskia S; Lange, Sandra S; Krebs, Vivien V; Schneider, Bjoern B; Lakner, Johannes J; Wittke, Christoph C; Kiefel, Christoph C; Jeremias, Irmela I; Murua Escobar, Hugo H; Vollmar, Brigitte B; Junghanss, Christian C

Publication Date: 2022-01-03

Variant appearance in text: RET: 2712C>G

PubMed Link: 35011712

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: 2712C>G; rs1800863

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: 2712C>G; rs1800863

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: N/A

PubMed Link: 34950210

Variant Present in the following documents:

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: N/A

PubMed Link: 34777782

Variant Present in the following documents:

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: N/A

PubMed Link: 34769224

Variant Present in the following documents:

View BVdb publication page

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Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications

Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY

Publication Date: 2021-10-21

Variant appearance in text: RET: 2712C>G; S904=

PubMed Link: 34675197

Variant Present in the following documents:

• 41467_2021_26308_MOESM6_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: N/A

PubMed Link: 33938650

Variant Present in the following documents:

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: 2712C>G

PubMed Link: 33918692

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2021-03-05

Variant appearance in text: N/A

PubMed Link: 33674644

Variant Present in the following documents:

View BVdb publication page

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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: N/A

PubMed Link: 33478437

Variant Present in the following documents:

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: S904S

PubMed Link: 33305128

Variant Present in the following documents:

• main.pdf

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: S904S

PubMed Link: 33112827

Variant Present in the following documents:

• Main text
• EC-20-0374.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: RET: 2712C>G; rs1800863

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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Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers

Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L

Publication Date: 2020-09-09

Variant appearance in text: RET: Ser904Ser

PubMed Link: 32917028

Variant Present in the following documents:

• cancers-12-02571-s001.pdf

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: S904S

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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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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

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: S904S

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.

Genes

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

Publication Date: 2019-11-08

Variant appearance in text: N/A

PubMed Link: 31717449

Variant Present in the following documents:

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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

Acta Neuropathologica Communications

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

Publication Date: 2019-08-30

Variant appearance in text: N/A

PubMed Link: 31470906

Variant Present in the following documents:

View BVdb publication page

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

Cancer Medicine

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

Publication Date: 2019-10

Variant appearance in text: RET: S904S

PubMed Link: 31408923

Variant Present in the following documents:

• Main text
• CAM4-8-6151.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1800863

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: RET: 2712C>G; rs1800863

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocrine Connections

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

Publication Date: 2018-09-01

Variant appearance in text: RET: 2712C>G; S904S

PubMed Link: 30300539

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2712C>G

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM1_ESM.xlsx, sheet 6
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.

Molecular Cancer

Pstrąg, Natalia N; Ziemnicka, Katarzyna K; Bluyssen, Hans H; Wesoły, Joanna J

Publication Date: 2018-08-08

Variant appearance in text: N/A

PubMed Link: 30089490

Variant Present in the following documents:

View BVdb publication page

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Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.

Journal Of Medical Case Reports

Janjua, Muhammad Usman MU; Long, Xiao-Dan XD; Mo, Zhao-Hui ZH; Dong, Chang-Sheng CS; Jin, Ping P

Publication Date: 2018-07-09

Variant appearance in text: N/A

PubMed Link: 29983117

Variant Present in the following documents:

View BVdb publication page

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Transcriptomic analysis and mutational status of IDH1 in paired primary-recurrent intrahepatic cholangiocarcinoma.

Bmc Genomics

Peraldo-Neia, C C; Ostano, P P; Cavalloni, G G; Pignochino, Y Y; Sangiolo, D D; De Cecco, L L; Marchesi, E E; Ribero, D D; Scarpa, A A; De Rose, A M AM; Giuliani, A A; Calise, F F; Raggi, C C; Invernizzi, P P; Aglietta, M M; Chiorino, G G; Leone, F F

Publication Date: 2018-06-05

Variant appearance in text: RET: 2712C>G

PubMed Link: 29871612

Variant Present in the following documents:

• 12864_2018_4829_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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

Plos One

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

Publication Date: 2018

Variant appearance in text: N/A

PubMed Link: 29649263

Variant Present in the following documents:

View BVdb publication page

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Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing.

Journal Of Applied Genetics

Lee, Ji Won JW; Shin, Jong-Yeon JY; Seo, Jeong-Sun JS

Publication Date: 2018-08

Variant appearance in text: RET: S904S; rs1800863

PubMed Link: 29525983

Variant Present in the following documents:

• 13353_2018_439_MOESM3_ESM.xlsx, sheet 2
• 13353_2018_439_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Antiangiogenic therapy for primitive neuroectodermal tumor with thalidomide: A case report and review of literature.

Medicine

Li, Qing Q; Liu, Yong Y; Yu, Yang Y

Publication Date: 2017-12

Variant appearance in text: RET: 2712C>G

PubMed Link: 29390485

Variant Present in the following documents:

• medi-96-e9272.pdf

View BVdb publication page

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Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib.

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

Kraft, Ira L IL; Akshintala, Srivandana S; Zhu, Yuelin Y; Lei, Haiyan H; Derse-Anthony, Claudia C; Dombi, Eva E; Steinberg, Seth M SM; Lodish, Maya M; Waguespack, Steven G SG; Kapustina, Oxana O; Fox, Elizabeth E; Balis, Frank M FM; Merino, Maria J MJ; Meltzer, Paul S PS; Glod, John W JW; Shern, Jack F JF; Widemann, Brigitte C BC

Publication Date: 2018-02-15

Variant appearance in text: N/A

PubMed Link: 29187393

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The results of molecular genetic testing for RET proto-oncogene mutations in patients with medullary thyroid carcinoma in a referral center after the two decade period.

Hippokratia

Rovcanin, B B; Damjanovic, S S; Zivaljevic, V V; Diklic, A A; Jovanovic, M M; Paunovic, I I

Publication Date: 2016

Variant appearance in text: N/A

PubMed Link: 29097883

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Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology

Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M

Publication Date: 2017-09

Variant appearance in text: RET: 2712C>G; Ser904Ser

PubMed Link: 28647780

Variant Present in the following documents:

• Main text
• 12022_2017_Article_9487.pdf

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

Endocrinology, Diabetes & Metabolism Case Reports

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

Publication Date: 2016

Variant appearance in text: RET: S904S

PubMed Link: 27994876

Variant Present in the following documents:

• Main text
• edmcr-2016-160093.pdf

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

Nature Communications

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

Publication Date: 2016-08-18

Variant appearance in text: RET: 2712C>G; rs1800863

PubMed Link: 27534895

Variant Present in the following documents:

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

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Novel biomarkers of resistance of pancreatic cancer cells to oncolytic vesicular stomatitis virus.

Oncotarget

Hastie, Eric E; Cataldi, Marcela M; Moerdyk-Schauwecker, Megan J MJ; Felt, Sébastien A SA; Steuerwald, Nury N; Grdzelishvili, Valery Z VZ

Publication Date: 2016-09-20

Variant appearance in text: RET: 2712C>G; S904S

PubMed Link: 27533247

Variant Present in the following documents:

• Main text
• oncotarget-07-61601-s006.xlsx, sheet 1
• oncotarget-07-61601.pdf

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Adrenal malignant melanoma masquerading as a pheochromocytoma in a patient with a history of a multifocal papillary and medullary thyroid carcinoma.

Hormones (Athens, Greece)

Barmpari, Maria E ME; Savvidis, Christos C; Dede, Anastasia D AD; Markogiannakis, Haridimos H; Dikoglou, Christina C; Xekouki, Paraskevi P; Stratakis, Constantine A CA; Andreas, Manouras M; Malaktari-Skarantavou, Sofia S

Publication Date: 2016-04

Variant appearance in text: RET: 2712C>G; S904S

PubMed Link: 27376430

Variant Present in the following documents:

• Main text

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

Plos One

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

Publication Date: 2016

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PubMed Link: 26829565

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: N/A

PubMed Link: 26549847

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Acute coronary syndrome: a rare case of multiple endocrine neoplasia syndromes with pheochromocytoma and medullary thyroid carcinoma.

Cancer Biology & Medicine

Maloberti, Alessadro A; Meani, Paolo P; Pirola, Roberto R; Varrenti, Marisa M; Boniardi, Marco M; De Biase, Anna Maria AM; Vallerio, Paola P; Bonacina, Edgardo E; Mancia, Giuseppe G; Loli, Paola P; Giannattasio, Cristina C

Publication Date: 2015-09

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PubMed Link: 26487970

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RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

European Journal Of Human Genetics : Ejhg

Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y

Publication Date: 2016-06

Variant appearance in text: RET: 2712C>G

PubMed Link: 26395553

Variant Present in the following documents:

• Main text

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