MSH6 c.3083C>A ;(p.S1028*)

Variant ID: 2-48028205-C-A

NM_000179.2(MSH6):c.3083C>A;(p.S1028*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Postmortem Somatic Sequencing of Tumors From Patients With Suspected Lynch Syndrome Has Clinical Utility for Surviving Relatives.

Jco Precision Oncology
Byers, Heather M HM; Jacobson, Angela A; McFaddin, Andrew S AS; Ussakli, Cigdem H CH; Newlin, Anna A; Stanich, Peter P PP; More, Stephanie S; Hamblett, Amanda A; Tait, Jonathan F JF; Shirts, Brian B; Pritchard, Colin C CC; Konnick, Eric Q EQ; Lockwood, Christina M CM
Publication Date: 2018

Variant appearance in text: MSH6: S1028X
PubMed Link: 32913991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Cancer
Kim, Soyoun Rachel SR; Tone, Alicia A; Kim, Raymond H RH; Cesari, Matthew M; Clarke, Blaise A BA; Eiriksson, Lua L; Hart, Tae T; Aronson, Melyssa M; Holter, Spring S; Lytwyn, Alice A; Maganti, Manjula M; Oldfield, Leslie L; Gallinger, Steven S; Bernardini, Marcus Q MQ; Oza, Amit M AM; Djordjevic, Bojana B; Lerner-Ellis, Jordan J; Van de Laar, Emily E; Vicus, Danielle D; Pugh, Trevor J TJ; Pollett, Aaron A; Ferguson, Sarah E SE
Publication Date: 2020-11-15

Variant appearance in text: MSH6: 3083C>A; Ser1028*
PubMed Link: 32809219
Variant Present in the following documents:
  • Main text
  • CNCR-126-4886.pdf
View BVdb publication page



Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.

Plos One
Price, Jessica C JC; Pollock, Lana M LM; Rudd, Meghan L ML; Fogoros, Sarah K SK; Mohamed, Hassan H; Hanigan, Christin L CL; Le Gallo, Matthieu M; , ; Zhang, Suiyuan S; Cruz, Pedro P; Cherukuri, Praveen F PF; Hansen, Nancy F NF; McManus, Kirk J KJ; Godwin, Andrew K AK; Sgroi, Dennis C DC; Mullikin, James C JC; Merino, Maria J MJ; Hieter, Philip P; Bell, Daphne W DW
Publication Date: 2014

Variant appearance in text: MSH6: S1028X
PubMed Link: 23755103
Variant Present in the following documents:
  • pone.0063313.s011.xlsx, sheet 1
View BVdb publication page



Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Nature Genetics
Le Gallo, Matthieu M; O'Hara, Andrea J AJ; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; O'Neil, Nigel J NJ; Price, Jessica C JC; Zhang, Suiyuan S; England, Bryant M BM; Godwin, Andrew K AK; Sgroi, Dennis C DC; , ; Hieter, Philip P; Mullikin, James C JC; Merino, Maria J MJ; Bell, Daphne W DW
Publication Date: 2012-12

Variant appearance in text: MSH6: S1028X
PubMed Link: 23104009
Variant Present in the following documents:
  • NIHMS412622-supplement-5.xls, sheet 1
View BVdb publication page