Publications:

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Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology

Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M

Publication Date: 2022

Variant appearance in text: RET: 229C>T; Arg77Cys

PubMed Link: 35936718

Variant Present in the following documents:

• Table_4.xlsx, sheet 2

View BVdb publication page

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: R77C

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal

Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-07-04

Variant appearance in text: RET: R77C

PubMed Link: 35788129

Variant Present in the following documents:

• 41408_2022_699_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: RET: 229C>T; R77C

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: RET: 229C>T; Arg77Cys

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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HER2 Amplification in Advanced NSCLC Patients After Progression on EGFR-TKI and Clinical Response to EGFR-TKI Plus Pyrotinib Combination Therapy.

Oncotargets And Therapy

Gan, Jiadi J; Huang, Yihua Y; Liao, Jun J; Pang, Lanlan L; Fang, Wenfeng W

Publication Date: 2021

Variant appearance in text: RET: R77C

PubMed Link: 34824536

Variant Present in the following documents:

• Main text
• ott-14-5297.pdf

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: 229C>T; R77C

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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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: RET: 229C>T; R77C

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

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

Publication Date: 2018-09

Variant appearance in text: RET: 229C>T

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

View BVdb publication page

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Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.

Orphanet Journal Of Rare Diseases

Jiang, Qian Q; Wang, Yang Y; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Wang, Hui H; Liu, Na N; Wu, Jian J; Zhang, Feng F; Chakravarti, Aravinda A; Cai, Wei W; Li, Long L

Publication Date: 2019-10-30

Variant appearance in text: RET: Arg77Cys

PubMed Link: 31666091

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Frontiers In Genetics

Wang, Hui H; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Li, Long L; Jiang, Qian Q

Publication Date: 2019

Variant appearance in text: RET: 229C>T; Arg77Cys

PubMed Link: 31649719

Variant Present in the following documents:

• Main text
• fgene-10-00924.pdf

View BVdb publication page

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget

Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-05-08

Variant appearance in text: RET: R77C

PubMed Link: 29844865

Variant Present in the following documents:

• oncotarget-09-23960-s003.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.

Journal Of Experimental & Clinical Cancer Research : Cr

Mendes Oliveira, Duarte D; Grillone, Katia K; Mignogna, Chiara C; De Falco, Valentina V; Laudanna, Carmelo C; Biamonte, Flavia F; Locane, Rosa R; Corcione, Francesco F; Fabozzi, Massimiliano M; Sacco, Rosario R; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-04-17

Variant appearance in text: RET: R77C

PubMed Link: 29665843

Variant Present in the following documents:

• Main text
• 13046_2018_746_MOESM2_ESM.xlsx, sheet 1
• 13046_2018_Article_746.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: RET: R77C

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: Arg77Cys

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

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RET somatic mutations are underrecognized in Hirschsprung disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Jiang, Qian Q; Liu, Fang F; Miao, Chunyue C; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Su, Lin L; Yu, Kaihui K; Chen, Xiaoli X; Zhang, Feng F; Chakravarti, Aravinda A; Li, Long L

Publication Date: 2018-07

Variant appearance in text: RET: 229C>T; Arg77Cys

PubMed Link: 29261189

Variant Present in the following documents:

• Main text

View BVdb publication page

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CRISPR/Cas9 therapeutics: a cure for cancer and other genetic diseases.

Oncotarget

Khan, Faheem Ahmed FA; Pandupuspitasari, Nuruliarizki Shinta NS; Chun-Jie, Huang H; Ao, Zhou Z; Jamal, Muhammad M; Zohaib, Ali A; Khan, Farhan Ahmed FA; Hakim, Muthia Raihana MR; ShuJun, Zhang Z

Publication Date: 2016-08-09

Variant appearance in text: RET: 229C>T; R77C

PubMed Link: 27250031

Variant Present in the following documents:

• Main text
• oncotarget-07-52541.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HSCR1: R77C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RET: R77C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Human Molecular Genetics

McDonell, Laura M LM; Kernohan, Kristin D KD; Boycott, Kym M KM; Sawyer, Sarah L SL

Publication Date: 2015-10-15

Variant appearance in text: RET: R77C

PubMed Link: 26152202

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.

World Journal Of Gastroenterology

Guan, Tao T; Li, Ji-Cheng JC; Li, Min-Ju MJ; Tou, Jin-Fa JF

Publication Date: 2005-01-14

Variant appearance in text: RET: R77C

PubMed Link: 15633231

Variant Present in the following documents:

• Main text

View BVdb publication page

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A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bolk, S S; Pelet, A A; Hofstra, R M RM; Angrist, M M; Salomon, R R; Croaker, D D; Buys, C H CH; Lyonnet, S S; Chakravarti, A A

Publication Date: 2000-01-04

Variant appearance in text: RET: R77C

PubMed Link: 10618407

Variant Present in the following documents:

• Main text

View BVdb publication page

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