MSH6 c.2426_2428del ;(p.V809del)

Variant ID: 2-48027546-TGTA-T

NM_000179.2(MSH6):c.2426_2428del;(p.V809del)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: 2426_2428delTAG; Val809del
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: MSH6: 2426_2428del; Val809del
PubMed Link: 33840814
Variant Present in the following documents:
  • Main text
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
  • 41431_2021_Article_878.pdf
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: MSH6: 2426_2428del; Val809del
PubMed Link: 33840814
Variant Present in the following documents:
  • Main text
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
  • 41431_2021_Article_878.pdf
View BVdb publication page



Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances
Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L
Publication Date: 2019

Variant appearance in text: MSH6: 2426_2428del; Val809del
PubMed Link: 32642664
Variant Present in the following documents:
  • Main text
  • vdz033.pdf
View BVdb publication page



A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Human Mutation
Gallon, Richard R; Mühlegger, Barbara B; Wenzel, Sören-Sebastian SS; Sheth, Harsh H; Hayes, Christine C; Aretz, Stefan S; Dahan, Karin K; Foulkes, William W; Kratz, Christian P CP; Ripperger, Tim T; Azizi, Amedeo A AA; Baris Feldman, Hagit H; Chong, Anne-Laure AL; Demirsoy, Ugur U; Florkin, Benoît B; Imschweiler, Thomas T; Januszkiewicz-Lewandowska, Danuta D; Lobitz, Stephan S; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Perez-Alonso, Vanesa V; Perne, Claudia C; Ragab, Iman I; Rosenbaum, Thorsten T; Rueda, Daniel D; Seidel, Markus G MG; Suerink, Manon M; Taeubner, Julia J; Zimmermann, Stefanie-Yvonne SY; Zschocke, Johannes J; Borthwick, Gillian M GM; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Wimmer, Katharina K
Publication Date: 2019-05

Variant appearance in text: MSH6: Val809del
PubMed Link: 30740824
Variant Present in the following documents:
  • HUMU-40-649-s003.xlsx, sheet 1
  • HUMU-40-649-s002.xlsx, sheet 1
View BVdb publication page



Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

European Journal Of Human Genetics : Ejhg
Taeubner, Julia J; Wimmer, Katharina K; Muleris, Martine M; Lascols, Olivier O; Colas, Chrystelle C; Fauth, Christine C; Brozou, Triantafyllia T; Felsberg, Joerg J; Riemer, Jasmin J; Gombert, Michael M; Ginzel, Sebastian S; Hoell, Jessica I JI; Borkhardt, Arndt A; Kuhlen, Michaela M
Publication Date: 2018-03

Variant appearance in text: MSH6: 2426_2428delTAG; Val809del
PubMed Link: 29302048
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.

European Journal Of Pediatrics
Brozou, Triantafyllia T; Taeubner, Julia J; Velleuer, Eunike E; Dugas, Martin M; Wieczorek, Dagmar D; Borkhardt, Arndt A; Kuhlen, Michaela M
Publication Date: 2018-01

Variant appearance in text: MSH6: 2426_2428delTAG; Val809del
PubMed Link: 28929227
Variant Present in the following documents:
  • Main text
  • 431_2017_Article_2997.pdf
View BVdb publication page