Publications:

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Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology

Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM

Publication Date: 2023

Variant appearance in text: RET: R912W

PubMed Link: 37007070

Variant Present in the following documents:

• Main text
• fonc-13-1133363.pdf

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Initial characterization of immune microenvironment in pheochromocytoma and paraganglioma.

Frontiers In Genetics

Jin, Bo B; Han, Wencong W; Guo, Jingjing J; Tian, Jie J; He, Shiming S; Gong, Yanqing Y; Zhou, Jingcheng J; He, Qun Q; Shen, Qi Q; Zhang, Zheng Z

Publication Date: 2022

Variant appearance in text: RET: 2734C>T

PubMed Link: 36568391

Variant Present in the following documents:

• Main text
• fgene-13-1022131.pdf

View BVdb publication page

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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: R912W

PubMed Link: 36166639

Variant Present in the following documents:

• can-22-0834_supplementary_figure_s5_suppsf5.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: RET: R912W

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RET: R912W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications

Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2019-04-11

Variant appearance in text: RET: 2734C>T; R912W

PubMed Link: 30975989

Variant Present in the following documents:

• 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: RET: R912W

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: RET: R912W

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.

Journal Of Neuro-Oncology

Maher, Ossama M OM; Khatua, Soumen S; Mukherjee, Devashis D; Olar, Adriana A; Lazar, Alexander A; Luthra, Raja R; Liu, Diane D; Wu, Jimin J; Ketonen, Leena L; Zaky, Wafik W

Publication Date: 2016-03

Variant appearance in text: RET: 2734C>T

PubMed Link: 26718692

Variant Present in the following documents:

• Main text

View BVdb publication page

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