Publications:

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Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Cancer Discovery

Crisafulli, Giovanni G; Sartore-Bianchi, Andrea A; Lazzari, Luca L; Pietrantonio, Filippo F; Amatu, Alessio A; Macagno, Marco M; Barault, Ludovic L; Cassingena, Andrea A; Bartolini, Alice A; Luraghi, Paolo P; Mauri, Gianluca G; Battuello, Paolo P; Personeni, Nicola N; Zampino, Maria Giulia MG; Pessei, Valeria V; Vitiello, Pietro Paolo PP; Tosi, Federica F; Idotta, Laura L; Morano, Federica F; Valtorta, Emanuele E; Bonoldi, Emanuela E; Germano, Giovanni G; Di Nicolantonio, Federica F; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A

Publication Date: 2022-07-06

Variant appearance in text: MSH6: G1139S

PubMed Link: 35522273

Variant Present in the following documents:

• Main text
• 1656.pdf
• cd-21-1434_supplementary_figures_and_tables_suppsf1-sf7st1-st3.pdf

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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: Gly1139Ser

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

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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: 3415G>A; Gly1139Ser; rs63751063

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MSH6: G1139S

PubMed Link: 32849802

Variant Present in the following documents:

• Main text
• fgene-11-00798.pdf

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Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.

Genes, Chromosomes & Cancer

Schubert, Stephanie A SA; Ruano, Dina D; Tiersma, Yvonne Y; Drost, Mark M; de Wind, Niels N; Nielsen, Maartje M; van Hest, Liselotte P LP; Morreau, Hans H; de Miranda, Noel F C C NFCC; van Wezel, Tom T

Publication Date: 2020-07-02

Variant appearance in text: MSH6: Gly1139Ser

PubMed Link: 32615015

Variant Present in the following documents:

• Main text
• GCC-59-697.pdf

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Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

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

Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N

Publication Date: 2020-05

Variant appearance in text: MSH6: G1139S

PubMed Link: 31965077

Variant Present in the following documents:

• Main text
• 41436_2019_Article_736.pdf

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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics

Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H

Publication Date: 2017-05

Variant appearance in text: MSH6: G1139S

PubMed Link: 28531214

Variant Present in the following documents:

• Main text
• pgen.1006765.pdf

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Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

Plos One

Wielders, Eva A L EA; Houlleberghs, Hellen H; Isik, Gözde G; te Riele, Hein H

Publication Date: 2013

Variant appearance in text: MSH6: G1139S

PubMed Link: 24040339

Variant Present in the following documents:

• Main text

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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Journal Of Biomedical Science

Terui, Hiroko H; Akagi, Kiwamu K; Kawame, Hiroshi H; Yura, Kei K

Publication Date: 2013-04-28

Variant appearance in text: MSH6: G1139S

PubMed Link: 23621914

Variant Present in the following documents:

• Main text

View BVdb publication page

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