POLE c.3256G>A ;(p.G1086S)

Variant ID: 12-133235900-C-T

NM_006231.2(POLE):c.3256G>A;(p.G1086S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
BirkeƤlv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: POLE: 3256G>A; G1086S
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Complete Response to Pembrolizumab in Advanced Colon Cancer Harboring Somatic POLE F367S Mutation with Microsatellite Stability Status: A Case Study.

Oncotargets And Therapy
Chen, Jianxin J; Lou, Haizhou H
Publication Date: 2021

Variant appearance in text: POLE: G1086S
PubMed Link: 33727829
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Phase II Study of Avelumab Monotherapy in Patients with Mismatch Repair-Deficient/Microsatellite Instability-High or POLE-Mutated Metastatic or Unresectable Colorectal Cancer.

Cancer Research And Treatment
Kim, Jwa Hoon JH; Kim, Sun Young SY; Baek, Ji Yeon JY; Cha, Yong Jun YJ; Ahn, Joong Bae JB; Kim, Han Sang HS; Lee, Keun-Wook KW; Kim, Ji-Won JW; Kim, Tae-You TY; Chang, Won Jin WJ; Park, Joon Oh JO; Kim, Jihun J; Kim, Jeong Eun JE; Hong, Yong Sang YS; Kim, Yeul Hong YH; Kim, Tae Won TW
Publication Date: 2020-10

Variant appearance in text: POLE: G1086S
PubMed Link: 32340084
Variant Present in the following documents:
  • Main text
  • crt-2020-218-suppl.pdf
  • crt-2020-218.pdf
View BVdb publication page