APC c.1705G>A ;(p.V569M)

Variant ID: 5-112164631-G-A

NM_000038.5(APC):c.1705G>A;(p.V569M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: APC: V569M
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report.

Journal For Immunotherapy Of Cancer
Blumendeller, Carolin C; Boehme, Julius J; Frick, Maximilian M; Schulze, Martin M; Rinckleb, Antje A; Kyzirakos, Christina C; Kayser, Simone S; Kopp, Maria M; Kelkenberg, Sabine S; Pieper, Natalia N; Bartsch, Oliver O; Hadaschick, Dirk D; Battke, Florian F; Stenzl, Arnulf A; Biskup, Saskia S
Publication Date: 2021-01

Variant appearance in text: APC: V569M
PubMed Link: 33431630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: APC: V569M
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: APC: V569M
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page