Publications:

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Molecular Genetics And Genomics : Mgg

Rocque, Mariève J MJ; Leipart, Vilde V; Kumar Singh, Ashish A; Mur, Pilar P; Olsen, Maren F MF; Engebretsen, Lars F LF; Martin-Ramos, Edgar E; Aligué, Rosa R; Sætrom, Pål P; Valle, Laura L; Drabløs, Finn F; Otterlei, Marit M; Sjursen, Wenche W

Publication Date: 2023-03-01

Variant appearance in text: POLE: Glu277Ala

PubMed Link: 36856825

Variant Present in the following documents:

• Main text
• 438_2023_Article_2000.pdf

View BVdb publication page

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair.

Elife

Hodel, Karl P KP; de Borja, Richard R; Henninger, Erin E EE; Campbell, Brittany B BB; Ungerleider, Nathan N; Light, Nicholas N; Wu, Tong T; LeCompte, Kimberly G KG; Goksenin, A Yasemin AY; Bunnell, Bruce A BA; Tabori, Uri U; Shlien, Adam A; Pursell, Zachary F ZF

Publication Date: 2018-02-28

Variant appearance in text: POLE: E277A

PubMed Link: 29488881

Variant Present in the following documents:

• Main text
• elife-32692.pdf

View BVdb publication page

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.

Genome Research

Shinbrot, Eve E; Henninger, Erin E EE; Weinhold, Nils N; Covington, Kyle R KR; Göksenin, A Yasemin AY; Schultz, Nikolaus N; Chao, Hsu H; Doddapaneni, HarshaVardhan H; Muzny, Donna M DM; Gibbs, Richard A RA; Sander, Chris C; Pursell, Zachary F ZF; Wheeler, David A DA

Publication Date: 2014-11

Variant appearance in text: POLE: E277A

PubMed Link: 25228659

Variant Present in the following documents:

• 1740.pdf

View BVdb publication page