Publications:

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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: 476C>T; Ala159Val; rs587778528

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.

Acta Neuropathologica Communications

Lorenz, Julia J; Rothhammer-Hampl, Tanja T; Zoubaa, Saida S; Bumes, Elisabeth E; Pukrop, Tobias T; Kölbl, Oliver O; Corbacioglu, Selim S; Schmidt, Nils O NO; Proescholdt, Martin M; Hau, Peter P; Riemenschneider, Markus J MJ

Publication Date: 2020-08-05

Variant appearance in text: MSH6: A159V

PubMed Link: 32758285

Variant Present in the following documents:

• 40478_2020_1000_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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MLH1 promoter hypermethylation in uterine carcinosarcoma rarely coexists with TP53 mutation.

Contemporary Oncology (Poznan, Poland)

Kunc, Michal M; Gabrych, Anna A; Rekawiecki, Bartlomiej B; Gorczynski, Adam A; Franke, Sabine S; Haybaeck, Johannes J; Biernat, Wojciech W; Czapiewski, Piotr P

Publication Date: 2019

Variant appearance in text: MSH6: 476C>T; A159V

PubMed Link: 31992951

Variant Present in the following documents:

• Main text

View BVdb publication page

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A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology

Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2020-02

Variant appearance in text: MSH6: A159V

PubMed Link: 31844290

Variant Present in the following documents:

• NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 26

View BVdb publication page

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: A159V

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MSH6: A159V

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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