Publications:

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Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery

Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI

Publication Date: 2023-03-02

Variant appearance in text: MSH6: 3964G>T; E1322*; rs1553333707

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6

View BVdb publication page

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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: MSH6: 3964G>T; Glu1322Ter

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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Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Frontiers In Oncology

Hallermayr, Ariane A; Neuhann, Teresa M TM; Steinke-Lange, Verena V; Scharf, Florentine F; Laner, Andreas A; Ewald, Roland R; Liesfeld, Ben B; Holinski-Feder, Elke E; Pickl, Julia M A JMA

Publication Date: 2022

Variant appearance in text: MSH6: 3964G>T; Glu1322*

PubMed Link: 36636551

Variant Present in the following documents:

• Table_1.xlsx, sheet 5
• Table_1.xlsx, sheet 7

View BVdb publication page

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MSH6: 3964G>T; E1322*

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM3_ESM.xlsx, sheet 1
• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: MSH6: Glu1322*

PubMed Link: 35002543

Variant Present in the following documents:

• Main text
• Table4.xlsx, sheet 1
• pore-27-1610013.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 3964G>T; E1322*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: MSH6: E1322*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology

MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM

Publication Date: 2019

Variant appearance in text: MSH6: 3964G>T; Glu1322*

PubMed Link: 32783018

Variant Present in the following documents:

• Main text

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: MSH6: E1322*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Cancer Research And Treatment

Choi, Min Chul MC; Hwang, Sohyun S; Kim, Sewha S; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Tae-Heon TH; Kang, Haeyoun H; An, Hee Jung HJ

Publication Date: 2020-04

Variant appearance in text: MSH6: 3964G>T; Glu1322*

PubMed Link: 32019284

Variant Present in the following documents:

• crt-2019-207-suppl3.pdf
• crt-2019-207-suppl1.pdf

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: MSH6: 3964G>T; E1322*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2019-08-30

Variant appearance in text: MSH6: 3964G>T; Glu1322Ter

PubMed Link: 31480372

Variant Present in the following documents:

• Main text
• cancers-11-01279-s001.xlsx, sheet 2
• cancers-11-01279.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: MSH6: E1322*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Cell

Petljak, Mia M; Alexandrov, Ludmil B LB; Brammeld, Jonathan S JS; Price, Stacey S; Wedge, David C DC; Grossmann, Sebastian S; Dawson, Kevin J KJ; Ju, Young Seok YS; Iorio, Francesco F; Tubio, Jose M C JMC; Koh, Ching Chiek CC; Georgakopoulos-Soares, Ilias I; Rodríguez-Martín, Bernardo B; Otlu, Burçak B; O'Meara, Sarah S; Butler, Adam P AP; Menzies, Andrew A; Bhosle, Shriram G SG; Raine, Keiran K; Jones, David R DR; Teague, Jon W JW; Beal, Kathryn K; Latimer, Calli C; O'Neill, Laura L; Zamora, Jorge J; Anderson, Elizabeth E; Patel, Nikita N; Maddison, Mark M; Ng, Bee Ling BL; Graham, Jennifer J; Garnett, Mathew J MJ; McDermott, Ultan U; Nik-Zainal, Serena S; Campbell, Peter J PJ; Stratton, Michael R MR

Publication Date: 2019-03-07

Variant appearance in text: MSH6: 3964G>T; E1322*

PubMed Link: 30849372

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Impact of genomic profiling on the treatment and outcomes of patients with advanced gastrointestinal malignancies.

Cancer Medicine

Dhir, Mashaal M; Choudry, Haroon A HA; Holtzman, Matthew P MP; Pingpank, James F JF; Ahrendt, Steven A SA; Zureikat, Amer H AH; Hogg, Melissa E ME; Bartlett, David L DL; Zeh, Herbert J HJ; Singhi, Aatur D AD; Bahary, Nathan N

Publication Date: 2017-01

Variant appearance in text: MSH6: E1322*

PubMed Link: 28028924

Variant Present in the following documents:

• CAM4-6-195-s001.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: MSH6: 3964G>T; E1322*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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: MSH6: E1322*

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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Replicative DNA polymerase mutations in cancer.

Current Opinion In Genetics & Development

Heitzer, Ellen E; Tomlinson, Ian I

Publication Date: 2014-02

Variant appearance in text: MSH6: E1322X

PubMed Link: 24583393

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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