POLE c.1103A>T ;(p.D368V)

Variant ID: 12-133252324-T-A

NM_006231.2(POLE):c.1103A>T;(p.D368V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Current Prognostic and Predictive Biomarkers for Endometrial Cancer in Clinical Practice: Recommendations/Proposal from the Italian Study Group.

Frontiers In Oncology
Zannoni, Gian Franco GF; Bragantini, Emma E; Castiglione, Francesca F; Fassan, Matteo M; Troncone, Giancarlo G; Inzani, Frediano F; Pesci, Anna A; Santoro, Angela A; Fraggetta, Filippo F
Publication Date: 2022

Variant appearance in text: POLE: D368V
PubMed Link: 35463299
Variant Present in the following documents:
  • Main text
  • fonc-12-805613.pdf
View BVdb publication page



Phenotype of POLE-mutated endometrial cancer.

Plos One
Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW
Publication Date: 2019

Variant appearance in text: POLE: 1103A>T; D368V
PubMed Link: 30917185
Variant Present in the following documents:
  • Main text
  • pone.0214318.pdf
View BVdb publication page



DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

American Journal Of Human Genetics
Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP
Publication Date: 2018-12-06

Variant appearance in text: POLE: Asp368Val
PubMed Link: 30503519
Variant Present in the following documents:
  • mmc2.pdf
  • main.pdf
View BVdb publication page



POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Oncotarget
Esteban-Jurado, Clara C; Giménez-Zaragoza, David D; Muñoz, Jenifer J; Franch-Expósito, Sebastià S; Álvarez-Barona, Miriam M; Ocaña, Teresa T; Cuatrecasas, Miriam M; Carballal, Sabela S; López-Cerón, María M; Marti-Solano, Maria M; Díaz-Gay, Marcos M; van Wezel, Tom T; Castells, Antoni A; Bujanda, Luis L; Balmaña, Judith J; Gonzalo, Victoria V; Llort, Gemma G; Ruiz-Ponte, Clara C; Cubiella, Joaquín J; Balaguer, Francesc F; Aligué, Rosa R; Castellví-Bel, Sergi S
Publication Date: 2017-04-18

Variant appearance in text: POLE: D368V
PubMed Link: 28423643
Variant Present in the following documents:
  • Main text
  • oncotarget-08-26732.pdf
View BVdb publication page



Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.

Genes
Mertz, Tony M TM; Harcy, Victoria V; Roberts, Steven A SA
Publication Date: 2017-01-22

Variant appearance in text: POLE: D368V
PubMed Link: 28117753
Variant Present in the following documents:
  • Main text
View BVdb publication page