Publications:

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Prognostic value of extracellular matrix gene mutations and expression in multiple myeloma.

Blood Cancer Journal

Evers, Marietheres M; Schreder, Martin M; Stühmer, Thorsten T; Jundt, Franziska F; Ebert, Regina R; Hartmann, Tanja Nicole TN; Altenbuchinger, Michael M; Rudelius, Martina M; Kuric, Martin M; Rindt, Wyonna Darleen WD; Steinbrunn, Torsten T; Langer, Christian C; Heredia-Guerrero, Sofia Catalina SC; Einsele, Hermann H; Bargou, Ralf Christian RC; Rosenwald, Andreas A; Leich, Ellen E

Publication Date: 2023-03-23

Variant appearance in text: COL4A1: E456K

PubMed Link: 36959208

Variant Present in the following documents:

• 41408_2023_817_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Multi-omic machine learning predictor of breast cancer therapy response.

Nature

Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C

Publication Date: 2022-01

Variant appearance in text: COL4A1: 1366G>A

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: COL4A1: E456K

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: COL4A1: E456K

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: COL4A1: E456K

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP

Publication Date: 2021-01-25

Variant appearance in text: COL4A1: 1366G>A; Glu456Lys

PubMed Link: 31738409

Variant Present in the following documents:

• Main text
• gfz173.pdf

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: COL4A1: 1366G>A; E456K

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: COL4A1: E456K

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: COL4A1: 1366G>A; E456K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: COL4A1: E456K

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: COL4A1: E456K

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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