Publications:

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: SMAD4: G352R

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: SMAD4: G352R

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: SMAD4: G352R

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

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Prognostic Impact of An Integrative Landscape of Clinical, Immune, and Molecular Features in Non-Metastatic Rectal Cancer.

Frontiers In Oncology

Iseas, Soledad S; Sendoya, Juan M JM; Robbio, Juan J; Coraglio, Mariana M; Kujaruk, Mirta M; Mikolaitis, Vanesa V; Rizzolo, Mariana M; Cabanne, Ana A; Ruiz, Gonzalo G; Salanova, Rubén R; Gualdrini, Ubaldo U; Méndez, Guillermo G; Antelo, Marina M; Carballido, Marcela M; Rotondaro, Cecilia C; Viglino, Julieta J; Eleta, Martín M; Di Sibio, Alejandro A; Podhajcer, Osvaldo L OL; Roca, Enrique E; Llera, Andrea S AS; Golubicki, Mariano M; Abba, Martín Carlos MC

Publication Date: 2021

Variant appearance in text: SMAD4: G352R

PubMed Link: 35071006

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Nature Communications

Lin, Jianzhen J; Peng, Xinxin X; Dong, Kun K; Long, Junyu J; Guo, Xuejiao X; Li, Hongyue H; Bai, Yi Y; Yang, Xu X; Wang, Dongxu D; Lu, Xin X; Mao, Yilei Y; Sang, Xinting X; Ji, Xuwo X; Zhao, Haitao H; Liang, Han H

Publication Date: 2021-08-06

Variant appearance in text: SMAD4: G352R

PubMed Link: 34362903

Variant Present in the following documents:

• 41467_2021_25012_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: SMAD4: G352R

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: SMAD4: G352R

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine

Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F

Publication Date: 2021-04

Variant appearance in text: SMAD4: G352R

PubMed Link: 33862582

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: SMAD4: G352R

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 7

View BVdb publication page

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Genomic characterization of malignant progression in neoplastic pancreatic cysts.

Nature Communications

Noë, Michaël M; Niknafs, Noushin N; Fischer, Catherine G CG; Hackeng, Wenzel M WM; Beleva Guthrie, Violeta V; Hosoda, Waki W; Debeljak, Marija M; Papp, Eniko E; Adleff, Vilmos V; White, James R JR; Luchini, Claudio C; Pea, Antonio A; Scarpa, Aldo A; Butturini, Giovanni G; Zamboni, Giuseppe G; Castelli, Paola P; Hong, Seung-Mo SM; Yachida, Shinichi S; Hiraoka, Nobuyoshi N; Gill, Anthony J AJ; Samra, Jaswinder S JS; Offerhaus, G Johan A GJA; Hoorens, Anne A; Verheij, Joanne J; Jansen, Casper C; Adsay, N Volkan NV; Jiang, Wei W; Winter, Jordan J; Albores-Saavedra, Jorge J; Terris, Benoit B; Thompson, Elizabeth D ED; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Karchin, Rachel R; Scharpf, Robert B RB; Brosens, Lodewijk A A LAA; Velculescu, Victor E VE; Wood, Laura D LD

Publication Date: 2020-08-14

Variant appearance in text: SMAD4: G352R

PubMed Link: 32796935

Variant Present in the following documents:

• 41467_2020_17917_MOESM7_ESM.xlsx, sheet 1
• 41467_2020_17917_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: SMAD4: G352R

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SMAD4: G352R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: SMAD4: G352R

PubMed Link: 31515488

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11959.pdf
• 41467_2019_11959_MOESM2_ESM.pdf

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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: SMAD4: G352R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Cancer Medicine

Sen, Manimala M; Katragadda, Shanmukh S; Ravichandran, Aarthi A; Deshpande, Gouri G; Parulekar, Minothi M; Nayanala, Swetha S; Vittal, Vikram V; Shen, Weiming W; Phooi Nee Yong, Melanie M; Jacob, Jemima J; Parchuru, Sravanthi S; Dhanuskodi, Kalpana K; Eyring, Kenneth K; Agrawal, Pooja P; Agarwal, Smita S; Shanmugam, Ashwini A; Gupta, Satish S; Vishwanath, Divya D; Kumari, Kiran K; Hariharan, Arun K AK; Balaji, Sai A SA; Liang, Qiaoling Q; Robolledo, Belen B; Gauribidanur Raghavendrachar, Vijayashree V; Oomer Farooque, Mohammed M; Buresh, Cary J CJ; Ramamoorthy, Preveen P; Bahadur, Urvashi U; Subramanian, Kalyanasundaram K; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Sankaran, Satish S; Gupta, Vaijayanti V

Publication Date: 2017-05

Variant appearance in text: SMAD4: Gly352Arg

PubMed Link: 28371134

Variant Present in the following documents:

• CAM4-6-883-s002.xlsx, sheet 21
• CAM4-6-883-s002.xlsx, sheet 5

View BVdb publication page

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Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine

Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM

Publication Date: 2016-05-04

Variant appearance in text: SMAD4: Gly352Arg

PubMed Link: 27146902

Variant Present in the following documents:

• Main text
• 12967_2016_Article_878.pdf

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: SMAD4: G352R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.

Oncotarget

Lim, Byungho B; Mun, Jihyeob J; Kim, Jeong-Hwan JH; Kim, Chan Wook CW; Roh, Seon Ae SA; Cho, Dong-Hyung DH; Kim, Yong Sung YS; Kim, Seon-Young SY; Kim, Jin Cheon JC

Publication Date: 2015-09-08

Variant appearance in text: SMAD4: G352R

PubMed Link: 26109429

Variant Present in the following documents:

• oncotarget-06-22179-s002.xls, sheet 4

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: SMAD4: G352R

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data.

Plos One

Kumar, Runjun D RD; Chang, Li-Wei LW; Ellis, Matthew J MJ; Bose, Ron R

Publication Date: 2013

Variant appearance in text: SMAD4: G352R

PubMed Link: 23826350

Variant Present in the following documents:

• pone.0067980.s003.xls, sheet 1

View BVdb publication page

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