Publications:

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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: rs145170911

PubMed Link: 36845679

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs145170911

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Precision oncology for RET-related tumors.

Frontiers In Oncology

Verrienti, Antonella A; Grani, Giorgio G; Sponziello, Marialuisa M; Pecce, Valeria V; Damante, Giuseppe G; Durante, Cosimo C; Russo, Diego D; Filetti, Sebastiano S

Publication Date: 2022

Variant appearance in text: RET: V871I

PubMed Link: 36091144

Variant Present in the following documents:

• Main text
• fonc-12-992636.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: V871I

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Non-small-cell lung cancer: how to manage RET-positive disease.

Drugs In Context

Andrini, Elisa E; Mosca, Mirta M; Galvani, Linda L; Sperandi, Francesca F; Ricciuti, Biagio B; Metro, Giulio G; Lamberti, Giuseppe G

Publication Date: 2022

Variant appearance in text: RET: V871I

PubMed Link: 35912003

Variant Present in the following documents:

• dic-2022-1-5.pdf

View BVdb publication page

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Sporadic Medullary Thyroid Carcinoma: Towards a Precision Medicine.

Frontiers In Endocrinology

Matrone, Antonio A; Gambale, Carla C; Prete, Alessandro A; Elisei, Rossella R

Publication Date: 2022

Variant appearance in text: RET: V871I

PubMed Link: 35422765

Variant Present in the following documents:

• Main text
• fendo-13-864253.pdf

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: RET: 2611G>A

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: RET: 2611G>A

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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Association between somatic RET mutations and clinical and genetic characteristics in patients with metastatic colorectal cancer.

Cancer Medicine

Yang, Yuan-Zhong YZ; Hu, Wan-Ming WM; Xia, Liang-Ping LP; He, Wen-Zhuo WZ

Publication Date: 2021-12

Variant appearance in text: RET: V871I

PubMed Link: 34741450

Variant Present in the following documents:

• Main text
• CAM4-10-8876.pdf

View BVdb publication page

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Association between somatic RET mutations and clinical and genetic characteristics in patients with metastatic colorectal cancer.

Cancer Medicine

Yang, Yuan-Zhong YZ; Hu, Wan-Ming WM; Xia, Liang-Ping LP; He, Wen-Zhuo WZ

Publication Date: 2021-11-05

Variant appearance in text: RET: V871I

PubMed Link: 34741450

Variant Present in the following documents:

• Main text
• CAM4-10-8876.pdf

View BVdb publication page

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Targeted activity of the small molecule kinase inhibitor Pz-1 towards RET and TRK kinases.

Scientific Reports

Moccia, Marialuisa M; Yang, Donglin D; Lakkaniga, Naga Rajiv NR; Frett, Brendan B; McConnell, Nicholas N; Zhang, Lingtian L; Brescia, Annalisa A; Federico, Giorgia G; Zhang, Lingzhi L; Salerno, Paolo P; Santoro, Massimo M; Li, Hong-Yu HY; Carlomagno, Francesca F

Publication Date: 2021-08-09

Variant appearance in text: RET: V871I

PubMed Link: 34373541

Variant Present in the following documents:

• Main text
• 41598_2021_Article_95612.pdf

View BVdb publication page

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Characterization of novel genetic alterations in salivary gland secretory carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Na, Kiyong K; Hernandez-Prera, Juan C JC; Lim, Jae-Yol JY; Woo, Ha Young HY; Yoon, Sun Och SO

Publication Date: 2020-04

Variant appearance in text: RET: 2611G>A; V871I

PubMed Link: 31822803

Variant Present in the following documents:

• Main text
• 41379_2019_Article_427.pdf

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: V871I

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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Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: V871I

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: RET: V871I; rs145170911

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Drug resistance profiles of mutations in the RET kinase domain.

British Journal Of Pharmacology

Liu, Xuan X; Shen, Tao T; Mooers, Blaine H M BHM; Hilberg, Frank F; Wu, Jie J

Publication Date: 2018-09

Variant appearance in text: RET: V871I

PubMed Link: 29908090

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs145170911

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: 2611G>A; Val871Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: RET: V871I; rs145170911

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney International

Hwang, Daw-Yang DY; Dworschak, Gabriel C GC; Kohl, Stefan S; Saisawat, Pawaree P; Vivante, Asaf A; Hilger, Alina C AC; Reutter, Heiko M HM; Soliman, Neveen A NA; Bogdanovic, Radovan R; Kehinde, Elijah O EO; Tasic, Velibor V; Hildebrandt, Friedhelm F

Publication Date: 2014-06

Variant appearance in text: RET: 2611G>A; V871I

PubMed Link: 24429398

Variant Present in the following documents:

• NIHMS543078-supplement-supplement_1.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RET: V871I

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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