Page 56 - TD-3-3

Tumor Discovery Somatic mutations in POLE and POLD1 in colorectal cancer

Acknowledgments 2022;41:216.

None. doi: 10.1186/s13046-022-02422-1
4. Wang F, Zhao Q, Wang YN, et al. Evaluation of POLE
Funding and POLD1 mutations as biomarkers for immunotherapy
This work was funded by the University of Nottingham outcomes across multiple cancer types. JAMA Oncol.
(for Mohammad Ilyas). 2019;5(10):1504-1506.
doi: 10.1001/jamaoncol.2019.2963
Conflict of interest
5. Gola M, Stefaniak P, Godlewski J, Jereczek-Fossa BA,
The authors declare no conflicts of interest. Starzyńska A. Prospects of POLD1 in human cancers:
A review. Cancers (Basel). 2023;15(6):1905.
Author contributions
doi: 10.3390/cancers15061905
Conceptualization: Hersh Abdul Ham-Karim, Mohammad 6. Mur P, García-Mulero S, del Valle J, et al. Role of POLE and
Ilyas POLD1 in familial cancer. Genet Med. 2020;22:2089-2100.
Formal Analysis: Narmeen Salih Ahmad doi: 10.1038/s41436-020-0922-2
Investigation: Hersh Abdul Ham-Karim, Narmeen Salih
Ahmad 7. Keshinro A, Vanderbilt C, Kim JK, et al. Tumor-infiltrating
Methodology: Hersh Abdul Ham-Karim, Mohammad Ilyas lymphocytes, tumor mutational burden, and genetic
Writing-original draft: Hersh Abdul Ham-Karim, alterations in microsatellite unstable, microsatellite stable,
Mohammad Ilyas or mutant POLE/POLD1 colon cancer. JCO Precis Oncol.
Writing-review & editing: Narmeen Salih Ahmad, 2021;5:817-826.
Mohammad Ilyas doi: 10.1200/PO.20.00456
Ethics approval and consent to participate 8. Valle L, Hernández-Illán E, Bellido F, et al. New insights
into POLE and POLD1 germline mutations in familial
Access to tissues and ethics approval were granted by colorectal cancer and polyposis. Hum Mol Genet.
Nottingham Health Sciences Biobank, which has approval 2014;23(13):3506-3512.
as an IRB from the North West – Greater Manchester doi: 10.1093/hmg/ddu058
Central Research Ethics Committee (REC reference: 15/ 9. Guerra J, Pinto C, Pinto D, et al. POLE somatic
NW/0685).
mutations in advanced colorectal cancer. Cancer Med.
Consent for publication 2017;6(12):2966-2971.
doi: 10.1002/cam4.1245
Patient consent was not required for this manuscript, as no
live tissues were utilized. 10. Bikhchandani M, Amersi F, Hendifar A, et al. POLE-mutant
colon cancer treated with PD-1 blockade showing clearance
Availability of data of circulating tumor DNA and prolonged disease-free
interval. Genes (Basel). 2023;14(5):1054.
All datasets on which the conclusions of this paper rely
have been presented in the main manuscript and the doi: 10.3390/genes14051054
additional supporting files. 11. Valle L, de Voer RM, Goldberg Y, et al. Update on genetic
predisposition to colorectal cancer and polyposis. Mol
References Aspects Med. 2019;69:10-26.
1. Alzahrani SM, Al Doghaither HA, Al-Ghafari AB. General doi: 10.1016/j.mam.2019.03.001
insight into cancer: An overview of colorectal cancer. Mol 12. Weber CAM, Krönke N, Volk V, et al. Rare germline variants
Clin Oncol. 2021;15(6):271.
in POLE and POLD1 encoding the catalytic subunits of DNA
doi: 10.3892/mco.2021.2433 polymerases ε and δ in glioma families. Acta Neuropathol
Commun. 2023;11:184.
2. Dunne PD, Arends MJ. Molecular pathological
classification of colorectal cancer-an update. Virchows Arch. doi: 10.1186/s40478-023-01689-5
2024;484:273-285.
13. Shah SM, Demidova EV, Lesh RW, et al. Therapeutic
doi: 10.1007/s00428-024-03746-3 implications of germline vulnerabilities in DNA repair for
precision oncology. Cancer Treat Rev. 2022;104:102337.
3. Ma X, Dong L, Liu X, Ou K, Yang L. POLE/POLD1
mutation and tumor immunotherapy. J Exp Clin Cancer Res. doi: 10.1016/j.ctrv.2021.102337

Volume 3 Issue 3 (2024) 8 doi: 10.36922/td.3659