Publications:

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: 1184G>A; G395E

PubMed Link: 36479248

Variant Present in the following documents:

• Main text
• fgene-13-963964.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: POLE: 1184G>A; Gly395Glu; rs546499094

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.

Molecular Genetics & Genomic Medicine

Siraj, Abdul K AK; Bu, Rong R; Iqbal, Kaleem K; Parvathareddy, Sandeep K SK; Masoodi, Tariq T; Siraj, Nabil N; Al-Rasheed, Maha M; Kong, Yan Y; Ahmed, Saeeda O SO; Al-Obaisi, Khadija A S KAS; Victoria, Ingrid G IG; Arshad, Maham M; Al-Dayel, Fouad F; Abduljabbar, Alaa A; Ashari, Luai H LH; Al-Kuraya, Khawla S KS

Publication Date: 2020-08

Variant appearance in text: POLE: 1184G>A; Gly395Glu

PubMed Link: 32567205

Variant Present in the following documents:

• Main text
• MGG3-8-e1368.pdf

View BVdb publication page