MSH6 c.3303G>C ;(p.K1101N)

Variant ID: 2-48030689-G-C

NM_000179.2(MSH6):c.3303G>C;(p.K1101N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: MSH6: K1101N
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s003.xlsx, sheet 1
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: MSH6: K1101N
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Cancer
Billingsley, Caroline C CC; Cohn, David E DE; Mutch, David G DG; Stephens, Julie A JA; Suarez, Adrian A AA; Goodfellow, Paul J PJ
Publication Date: 2015-02-01

Variant appearance in text: MSH6: K1101N
PubMed Link: 25224212
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replicative DNA polymerase mutations in cancer.

Current Opinion In Genetics & Development
Heitzer, Ellen E; Tomlinson, Ian I
Publication Date: 2014-02

Variant appearance in text: MSH6: K1101N
PubMed Link: 24583393
Variant Present in the following documents:
  • main.pdf
View BVdb publication page