Publications:

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Biorxiv : The Preprint Server For Biology

Liu, Mei Hong MH; Costa, Benjamin B; Choi, Una U; Bandler, Rachel C RC; Lassen, Emilie E; Grońska-Pęski, Marta M; Schwing, Adam A; Murphy, Zachary R ZR; Rosenkjær, Daniel D; Picciotto, Shany S; Bianchi, Vanessa V; Stengs, Lucie L; Edwards, Melissa M; Loh, Caitlin A CA; Truong, Tina K TK; Brand, Randall E RE; Pastinen, Tomi T; Wagner, J Richard JR; Skytte, Anne-Bine AB; Tabori, Uri U; Shoag, Jonathan E JE; Evrony, Gilad D GD

Publication Date: 2023-02-19

Variant appearance in text: POLE: E277G

PubMed Link: 36824744

Variant Present in the following documents:

• nihpp-2023.02.19.526140v1.pdf
• media-3.xlsx, sheet 4
• media-3.xlsx, sheet 3
• media-3.xlsx, sheet 1
• media-3.xlsx, sheet 2

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Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Frontiers In Genetics

Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H

Publication Date: 2022

Variant appearance in text: POLE: 830A>G; E277G

PubMed Link: 36479248

Variant Present in the following documents:

• Main text
• fgene-13-963964.pdf

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Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Biomolecules

Schamschula, Esther E; Kinzel, Miriam M; Wernstedt, Annekatrin A; Oberhuber, Klaus K; Gottschling, Hendrik H; Schnaiter, Simon S; Friedrichs, Nicolaus N; Merkelbach-Bruse, Sabine S; Zschocke, Johannes J; Gallon, Richard R; Wimmer, Katharina K

Publication Date: 2022-09-22

Variant appearance in text: POLE: 830A>G; E277G

PubMed Link: 36291559

Variant Present in the following documents:

• Main text
• biomolecules-12-01350.pdf

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Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.

Diagnostic Pathology

Moreno, Esther E; Rosa-Rosa, Juan M JM; Caniego-Casas, Tamara T; Ruz-Caracuel, Ignacio I; Perna, Cristian C; Guillén, Carmen C; Palacios, José J

Publication Date: 2020-07-14

Variant appearance in text: POLE: E277G

PubMed Link: 32664968

Variant Present in the following documents:

• Main text
• 13000_2020_Article_1001.pdf

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