Publications:

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KRAS, NRAS, BRAF, HER2 and MSI Status in a Large Consecutive Series of Colorectal Carcinomas.

International Journal Of Molecular Sciences

Martianov, Aleksandr S AS; Mitiushkina, Natalia V NV; Ershova, Anastasia N AN; Martynenko, Darya E DE; Bubnov, Mikhail G MG; Amankwah, Priscilla P; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Tiurin, Vladislav I VI; Venina, Aigul R AR; Anuskina, Aleksandra A AA; Gorgul, Yuliy A YA; Shestakova, Anna D AD; Maidin, Mikhail A MA; Belyaev, Alexey M AM; Baboshkina, Liliya S LS; Iyevleva, Aglaya G AG; Imyanitov, Evgeny N EN

Publication Date: 2023-03-02

Variant appearance in text: KRAS: K147E

PubMed Link: 36902296

Variant Present in the following documents:

• Main text
• ijms-24-04868.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KRAS: 439A>G; Lys147Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic Alteration Spectrum of Non-Small Cell Lung Cancer Patients in East-China Characterized by Tumor Tissue DNA and Cell-Free DNA.

Oncotargets And Therapy

Li, Jie J; Chen, Siwen S; Xue, Hui H; Wang, Haoyi H; Huang, Tianwei T; Xie, Hongya H; He, Jiang J; Ke, Cai C; Yu, Zhaonan Z; Ni, Bin B

Publication Date: 2022

Variant appearance in text: KRAS: K147E

PubMed Link: 35615557

Variant Present in the following documents:

• Main text
• ott-15-571.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KRAS: K147E

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Case Reports In Neurology

Ando, Yoshihito Y; Sawada, Mikio M; Kawakami, Tadataka T; Morita, Mitsuya M; Aoki, Yoko Y

Publication Date: 2021

Variant appearance in text: KRAS: 439A>G; Lys147Glu

PubMed Link: 33790768

Variant Present in the following documents:

• Main text
• crn-0013-0108.pdf

View BVdb publication page

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: KRAS: K147E

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

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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: KRAS: K147E

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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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KRAS: 439A>G; Lys147Glu

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: KRAS: K147E

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: KRAS: K147E; rs387907206

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: KRAS: K147E

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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K-Ras G-domain binding with signaling lipid phosphatidylinositol (4,5)-phosphate (PIP2): membrane association, protein orientation, and function.

The Journal Of Biological Chemistry

Cao, Shufen S; Chung, Stacey S; Kim, SoonJeung S; Li, Zhenlu Z; Manor, Danny D; Buck, Matthias M

Publication Date: 2019-04-26

Variant appearance in text: K-Ras4B: K147E

PubMed Link: 30792310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KRAS: K147E

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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From mutations to mechanisms and dysfunction via computation and mining of protein energy landscapes.

Bmc Genomics

Qiao, Wanli W; Akhter, Nasrin N; Fang, Xiaowen X; Maximova, Tatiana T; Plaku, Erion E; Shehu, Amarda A

Publication Date: 2018-09-24

Variant appearance in text: KRAS: K147E

PubMed Link: 30255791

Variant Present in the following documents:

• 12864_2018_Article_5024.pdf

View BVdb publication page

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Combined assessment of the TNM stage and BRAF mutational status at diagnosis in sporadic colorectal cancer patients.

Oncotarget

Sayagués, José María JM; Del Carmen, Sofía S; Del Mar Abad, María M; Corchete, Luís Antonio LA; Bengoechea, Oscar O; Anduaga, María Fernanda MF; Baldeón, María Jesús MJ; Cruz, Juan Jesús JJ; Alcazar, Jose Antonio JA; Angoso, María M; González, Marcos M; García, Jacinto J; Muñoz-Bellvis, Luís L; Orfao, Alberto A; Sarasquete, María Eugenia ME

Publication Date: 2018-05-08

Variant appearance in text: KRAS: K147E

PubMed Link: 29844874

Variant Present in the following documents:

• Main text

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: KRAS: K147E

PubMed Link: 29698444

Variant Present in the following documents:

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

View BVdb publication page

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Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C

Publication Date: 2017-12

Variant appearance in text: KRAS: 439A>G; Lys147Glu

PubMed Link: 29158550

Variant Present in the following documents:

• Main text
• 41431_2017_Article_22.pdf

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: KRAS: 439A>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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Oral Free Paper Sessions.

Virchows Archiv : An International Journal Of Pathology

Publication Date: 2016-09

Variant appearance in text: KRAS: K147E

PubMed Link: 27553392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: KRAS: K147E

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.

Nature Genetics

Fischer, Ute U; Forster, Michael M; Rinaldi, Anna A; Risch, Thomas T; Sungalee, Stéphanie S; Warnatz, Hans-Jörg HJ; Bornhauser, Beat B; Gombert, Michael M; Kratsch, Christina C; Stütz, Adrian M AM; Sultan, Marc M; Tchinda, Joelle J; Worth, Catherine L CL; Amstislavskiy, Vyacheslav V; Badarinarayan, Nandini N; Baruchel, André A; Bartram, Thies T; Basso, Giuseppe G; Canpolat, Cengiz C; Cario, Gunnar G; Cavé, Hélène H; Dakaj, Dardane D; Delorenzi, Mauro M; Dobay, Maria Pamela MP; Eckert, Cornelia C; Ellinghaus, Eva E; Eugster, Sabrina S; Frismantas, Viktoras V; Ginzel, Sebastian S; Haas, Oskar A OA; Heidenreich, Olaf O; Hemmrich-Stanisak, Georg G; Hezaveh, Kebria K; Höll, Jessica I JI; Hornhardt, Sabine S; Husemann, Peter P; Kachroo, Priyadarshini P; Kratz, Christian P CP; Te Kronnie, Geertruy G; Marovca, Blerim B; Niggli, Felix F; McHardy, Alice C AC; Moorman, Anthony V AV; Panzer-Grümayer, Renate R; Petersen, Britt S BS; Raeder, Benjamin B; Ralser, Meryem M; Rosenstiel, Philip P; Schäfer, Daniel D; Schrappe, Martin M; Schreiber, Stefan S; Schütte, Moritz M; Stade, Björn B; Thiele, Ralf R; von der Weid, Nicolas N; Vora, Ajay A; Zaliova, Marketa M; Zhang, Langhui L; Zichner, Thomas T; Zimmermann, Martin M; Lehrach, Hans H; Borkhardt, Arndt A; Bourquin, Jean-Pierre JP; Franke, Andre A; Korbel, Jan O JO; Stanulla, Martin M; Yaspo, Marie-Laure ML

Publication Date: 2015-09

Variant appearance in text: KRAS: Lys147Glu

PubMed Link: 26214592

Variant Present in the following documents:

• Main text
• NIHMS64036-supplement-3.xlsx, sheet 3
• emss-64036.pdf

View BVdb publication page

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Novel KRAS gene mutations in sporadic colorectal cancer.

Plos One

Naser, Walid M WM; Shawarby, Mohamed A MA; Al-Tamimi, Dalal M DM; Seth, Arun A; Al-Quorain, Abdulaziz A; Nemer, Areej M Al AM; Albagha, Omar M E OM

Publication Date: 2014

Variant appearance in text: KRAS: K147E

PubMed Link: 25412182

Variant Present in the following documents:

• Main text
• pone.0113350.pdf

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: KRAS: K147E

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Nature Communications

Mar, Brenton G BG; Bullinger, Lars B LB; McLean, Kathleen M KM; Grauman, Peter V PV; Harris, Marian H MH; Stevenson, Kristen K; Neuberg, Donna S DS; Sinha, Amit U AU; Sallan, Stephen E SE; Silverman, Lewis B LB; Kung, Andrew L AL; Lo Nigro, Luca L; Ebert, Benjamin L BL; Armstrong, Scott A SA

Publication Date: 2014-03-24

Variant appearance in text: KRAS: K147E

PubMed Link: 24662245

Variant Present in the following documents:

• NIHMS568254-supplement-1.pdf

View BVdb publication page

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