Publications:

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: Arg511Gly

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: MSH6: 1531A>G; Arg511Gly; rs773303940

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 3

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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: R511G

PubMed Link: 31965077

Variant Present in the following documents:

• 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: R511G

PubMed Link: 28531214

Variant Present in the following documents:

• Main text
• pgen.1006765.pdf

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