Publications:

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Single-cell RNA sequencing reveals the effects of chemotherapy on human pancreatic adenocarcinoma and its tumor microenvironment.

Nature Communications

Werba, Gregor G; Weissinger, Daniel D; Kawaler, Emily A EA; Zhao, Ende E; Kalfakakou, Despoina D; Dhara, Surajit S; Wang, Lidong L; Lim, Heather B HB; Oh, Grace G; Jing, Xiaohong X; Beri, Nina N; Khanna, Lauren L; Gonda, Tamas T; Oberstein, Paul P; Hajdu, Cristina C; Loomis, Cynthia C; Heguy, Adriana A; Sherman, Mara H MH; Lund, Amanda W AW; Welling, Theodore H TH; Dolgalev, Igor I; Tsirigos, Aristotelis A; Simeone, Diane M DM

Publication Date: 2023-02-13

Variant appearance in text: MSH2: Q61K

PubMed Link: 36781852

Variant Present in the following documents:

• 41467_2023_36296_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 181C>A; Gln61Lys

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Identification of CD318, TSPAN8 and CD66c as target candidates for CAR T cell based immunotherapy of pancreatic adenocarcinoma.

Nature Communications

Schäfer, Daniel D; Tomiuk, Stefan S; Küster, Laura N LN; Rawashdeh, Wa'el Al WA; Henze, Janina J; Tischler-Höhle, German G; Agorku, David J DJ; Brauner, Janina J; Linnartz, Cathrin C; Lock, Dominik D; Kaiser, Andrew A; Herbel, Christoph C; Eckardt, Dominik D; Lamorte, Melina M; Lenhard, Dorothee D; Schüler, Julia J; Ströbel, Philipp P; Missbach-Guentner, Jeannine J; Pinkert-Leetsch, Diana D; Alves, Frauke F; Bosio, Andreas A; Hardt, Olaf O

Publication Date: 2021-03-05

Variant appearance in text: MSH2: Q61K

PubMed Link: 33674603

Variant Present in the following documents:

• 41467_2021_21774_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q61K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer.

Nature Communications

Yoo, Seong-Keun SK; Song, Young Shin YS; Lee, Eun Kyung EK; Hwang, Jinha J; Kim, Hwan Hee HH; Jung, Gyeongseo G; Kim, Young A YA; Kim, Su-Jin SJ; Cho, Sun Wook SW; Won, Jae-Kyung JK; Chung, Eun-Jae EJ; Shin, Jong-Yeon JY; Lee, Kyu Eun KE; Kim, Jong-Il JI; Park, Young Joo YJ; Seo, Jeong-Sun JS

Publication Date: 2019-06-24

Variant appearance in text: MSH2: Q61K

PubMed Link: 31235699

Variant Present in the following documents:

• 41467_2019_10680_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine

Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM

Publication Date: 2017-04-19

Variant appearance in text: MSH2: Q61K

PubMed Link: 28420421

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC1: Q61K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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KRAS, NRAS, PIK3CA exon 20, and BRAF genotypes in synchronous and metachronous primary colorectal cancers diagnostic and therapeutic implications.

The Journal Of Molecular Diagnostics : Jmd

Balschun, Katharina K; Haag, Jochen J; Wenke, Ann-Kathrin AK; von Schönfels, Witigo W; Schwarz, Nicolas T NT; Röcken, Christoph C

Publication Date: 2011-07

Variant appearance in text: MSH2: 181C>A

PubMed Link: 21704278

Variant Present in the following documents:

• Main text

View BVdb publication page

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