MSH6 c.3840_3846del ;(p.E1281Lfs*44)

Variant ID: 2-48033629-AGGAGACT-A

NM_000179.2(MSH6):c.3840_3846del;(p.E1281Lfs*44)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MSH6: 3840_3846del; E1281Lfs*44
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.pdf
View BVdb publication page



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: 3840_3846delGGAGACT; Glu1281Leufs; rs63751319
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.

Human Pathology
Chen, Wei W; Hampel, Heather H; Pearlman, Rachel R; Jones, Dan D; Zhao, Weiqiang W; Alsomali, Mohammed M; Knight, Deborah D; Frankel, Wendy L WL
Publication Date: 2020-09

Variant appearance in text: MSH6: 3840_3846del; E1281Lfs*44
PubMed Link: 32652087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH6: 3840_3846delGGAGACT
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.

Familial Cancer
Ranola, John Michael O JMO; Pearlman, Rachel R; Hampel, Heather H; Shirts, Brian H BH
Publication Date: 2019-01

Variant appearance in text: MSH6: 3840_3846del
PubMed Link: 30019097
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH6: 3840_3846delGGAGACT; Glu1281Leufs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

The Ulster Medical Journal
Devlin, Lisa A LA; Graham, Colin A CA; Price, John H JH; Morrison, Patrick J PJ
Publication Date: 2008-01

Variant appearance in text: MSH6: 3840_3846delGGAGACT
PubMed Link: 18269114
Variant Present in the following documents:
  • Main text
  • umj7701-025.pdf
View BVdb publication page