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: NRAS: G60R

PubMed Link: 37007070

Variant Present in the following documents:

• Main text
• fonc-13-1133363.pdf

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: NRAS: G60R

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

View BVdb publication page

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Identification of NRAS Diagnostic Biomarkers and Drug Targets for Endometrial Cancer-An Integrated in Silico Approach.

International Journal Of Molecular Sciences

Alessandro, Larsen L; Low, Kat-Jun Eric KE; Abushelaibi, Aisha A; Lim, Swee-Hua Erin SE; Cheng, Wan-Hee WH; Chang, Sook-Keng SK; Lai, Kok-Song KS; Sum, Yap Wai YW; Maran, Sathiya S

Publication Date: 2022-11-18

Variant appearance in text: NRAS: G60R; rs1557982817

PubMed Link: 36430761

Variant Present in the following documents:

• Main text
• ijms-23-14285.pdf

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: NRAS: G60R

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Computational Analysis of Deleterious SNPs in NRAS to Assess Their Potential Correlation With Carcinogenesis.

Frontiers In Genetics

Behairy, Mohammed Y MY; Soltan, Mohamed A MA; Adam, Mohamed S MS; Refaat, Ahmed M AM; Ezz, Ehab M EM; Albogami, Sarah S; Fayad, Eman E; Althobaiti, Fayez F; Gouda, Ahmed M AM; Sileem, Ashraf E AE; Elfaky, Mahmoud A MA; Darwish, Khaled M KM; Alaa Eldeen, Muhammad M

Publication Date: 2022

Variant appearance in text: NRAS: G60R; rs1557982817

PubMed Link: 36051694

Variant Present in the following documents:

• Main text
• fgene-13-872845.pdf

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: NRAS: G60R

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)

Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H

Publication Date: 2022-01

Variant appearance in text: NRAS: G60R

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2
• bls-4-16-s005.xlsx, sheet 9

View BVdb publication page

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The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology

Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2021

Variant appearance in text: NRAS: 178G>A; Gly60Arg; rs1557982817

PubMed Link: 35127508

Variant Present in the following documents:

• Main text
• fonc-11-797505.pdf

View BVdb publication page

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TP53 mutations determined by targeted NGS in breast cancer: a case-control study.

Oncotarget

Andrikopoulou, Angeliki A; Terpos, Evangelos E; Chatzinikolaou, Spyridoula S; Apostolidou, Kleoniki K; Ntanasis-Stathopoulos, Ioannis I; Gavriatopoulou, Maria M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2021-10-12

Variant appearance in text: NRAS: Gly60Arg

PubMed Link: 34676052

Variant Present in the following documents:

• Main text
• oncotarget-12-2206.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: NRAS: G60R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease.

The Oncologist

Saunders, Ila M IM; Goodman, Aaron M AM; Kurzrock, Razelle R

Publication Date: 2020-02

Variant appearance in text: NRAS: G60R

PubMed Link: 32043767

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.

Molecular Cancer Therapeutics

Janku, Filip F; Diamond, Eli L EL; Goodman, Aaron M AM; Raghavan, Vaijayanthi Kandadai VK; Barnes, Tamara G TG; Kato, Shumei S; Abdel-Wahab, Omar O; Durham, Benjamin H BH; Meric-Bernstam, Funda F; Kurzrock, Razelle R

Publication Date: 2019-06

Variant appearance in text: NRAS: G60R

PubMed Link: 31015311

Variant Present in the following documents:

• Main text

View BVdb publication page

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Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon

Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S

Publication Date: 2018-12

Variant appearance in text: NRAS: G60R

PubMed Link: 30603682

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 1

View BVdb publication page

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Molecular pathogenesis of disease progression in MLL-rearranged AML.

Leukemia

Kotani, Shinichi S; Yoda, Akinori A; Kon, Ayana A; Kataoka, Keisuke K; Ochi, Yotaro Y; Shiozawa, Yusuke Y; Hirsch, Cassandra C; Takeda, June J; Ueno, Hiroo H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Nakagawa, Masahiro M MM; Nannya, Yasuhito Y; Kakiuchi, Nobuyuki N; Yamauchi, Takuji T; Aoki, Kosuke K; Shiraishi, Yuichi Y; Miyano, Satoru S; Maeda, Takahiro T; Maciejewski, Jaroslaw P JP; Takaori-Kondo, Akifumi A; Ogawa, Seishi S; Makishima, Hideki H

Publication Date: 2019-03

Variant appearance in text: NRAS: G60R

PubMed Link: 30209403

Variant Present in the following documents:

• 41375_2018_Article_253.pdf

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: NRAS: G60R

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3

View BVdb publication page

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Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.

Scientific Reports

Guo, Fang F; Gong, Hai H; Zhao, Huanhuan H; Chen, Jing J; Zhang, Yiming Y; Zhang, Lihua L; Shi, Xin X; Zhang, Aifeng A; Jin, Hui H; Zhang, Jianqiong J; He, Youji Y

Publication Date: 2018-04-17

Variant appearance in text: NRAS: G60R

PubMed Link: 29666387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: N-ras: 178G>A

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Phosphoproteomic Analyses of NRAS(G12) and NRAS(Q61) Mutant Melanocytes Reveal Increased CK2α Kinase Levels in NRAS(Q61) Mutant Cells.

The Journal Of Investigative Dermatology

Posch, Christian C; Sanlorenzo, Martina M; Vujic, Igor I; Oses-Prieto, Juan A JA; Cholewa, Brian D BD; Kim, Sarasa T ST; Ma, Jeffrey J; Lai, Kevin K; Zekhtser, Mitchell M; Esteve-Puig, Rosaura R; Green, Gary G; Chand, Shreya S; Burlingame, Alma L AL; Panzer-Grümayer, Renate R; Rappersberger, Klemens K; Ortiz-Urda, Susana S

Publication Date: 2016-10

Variant appearance in text: NRAS: G60R

PubMed Link: 27251789

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue.

International Journal Of Molecular Medicine

Fassunke, Jana J; Haller, Florian F; Hebele, Simone S; Moskalev, Evgeny A EA; Penzel, Roland R; Pfarr, Nicole N; Merkelbach-Bruse, Sabine S; Endris, Volker V

Publication Date: 2015-11

Variant appearance in text: NRAS: 178G>A; G60R

PubMed Link: 26352389

Variant Present in the following documents:

• Main text
• ijmm-36-05-1233.pdf

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: NRAS: G60R

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

British Journal Of Cancer

Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS

Publication Date: 2014-08-26

Variant appearance in text: N/A

PubMed Link: 24983367

Variant Present in the following documents:

View BVdb publication page

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Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Disease Models & Mechanisms

Runtuwene, Vincent V; van Eekelen, Mark M; Overvoorde, John J; Rehmann, Holger H; Yntema, Helger G HG; Nillesen, Willy M WM; van Haeringen, Arie A; van der Burgt, Ineke I; Burgering, Boudewijn B; den Hertog, Jeroen J

Publication Date: 2011-05

Variant appearance in text: NRAS: G60R

PubMed Link: 21263000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

Bioinformatics And Biology Insights

Kan, Takatsugu T; Paun, Bogdan C BC; Mori, Yuriko Y; Sato, Fumiaki F; Jin, Zhe Z; Hamilton, James P JP; Ito, Tetsuo T; Cheng, Yulan Y; David, Stefan S; Olaru, Alexandru V AV; Yang, Jian J; Agarwal, Rachana R; Abraham, John M JM; Meltzer, Stephen J SJ

Publication Date: 2007

Variant appearance in text: NRAS: Gly60Arg

PubMed Link: 18389087

Variant Present in the following documents:

• Main text
• bbi-2007-001.pdf

View BVdb publication page

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