Page 57 - TD-3-3
P. 57
Tumor Discovery Somatic mutations in POLE and POLD1 in colorectal cancer
14. Koulouris A, Tsagkaris C, Messaritakis I, et al. Resectable Res Pract. 2019;215(7):152445.
colorectal cancer: Current perceptions on the correlation doi: 10.1016/j.prp.2019.152445
of recurrence risk, microbiota and detection of
genetic mutations in liquid biopsies. Cancers (Basel). 23. Ham-Karim H, Ebili HO, Fadhil W, Asiri A, Hassall J,
2021;13(14):3522. Ilyas M. COLD-HRM: A combination of methods to
infer the nature of somatic mutations. Adv Cytol Pathol.
doi: 10.3390/cancers13143522 2017;2(2):54-61.
15. Fadhil W, Kindle K, Jackson D, et al. DNA content analysis doi: 10.15406/acp.2017.02.00017
of colorectal cancer defines a distinct ‘microsatellite and
chromosome stable’ group but does not predict response to 24. Brown D, White S, Harris R. Association of POLE and
radiotherapy. Int J Exp Pathol. 2014;95(1):16-23. POLD1 mutations with early-onset colorectal cancer. JAMA
Oncol. 2017;3(9):1256-1263.
doi: 10.1111/iep.12070
25. Church DN, Briggs SE, Palles C, et al. DNA polymerase ε
16. Fadhil W, Ibrahem S, Seth R, Ilyas M. Quick-multiplex- and δ exonuclease domain mutations in endometrial cancer.
consensus (QMC)-PCR followed by high-resolution Hum Mol Genet. 2013;22(14):2820-2828.
melting: A simple and robust method for mutation detection
in formalin-fixed paraffin-embedded tissue. J Clin Pathol. doi: 10.1093/hmg/ddt131
2010;63(2):134-140. 26. Imboden S, Nastic D, Ghaderi M, et al. Phenotype
of POLE-mutated endometrial cancer. PLoS One.
doi: 10.1136/jcp.2009.070508
2019;14(3):e0214318.
17. Seshagiri S, Stawiski EW, Durinck S, et al. Recurrent doi: 10.1371/journal.pone.0214318
R-spondin fusions in colon cancer. Nature. 2012;488:660-664.
27. Strauss JD, Pursell ZF. Replication DNA polymerases,
doi: 10.1038/nature11282
genome instability and cancer therapies. NAR Cancer.
18. Milbury CA, Li J, Liu P, Makrigiorgos GM. COLD-PCR: 2023;5(3):zcad033.
Improving the sensitivity of molecular diagnostics assays. doi: 10.1093/narcan/zcad033
Expert Rev Mol Diagn. 2011;11(2):159-169.
28. Zhu M, Cui H, Zhang L, Zhao K, Jia X, Jin H. Assessment
doi: 10.1586/erm.10.115 of POLE and POLD1 mutations as prognosis and
19. Choi Y, Chan AP. PROVEAN web server: A tool to predict immunotherapy biomarkers for stomach adenocarcinoma.
the functional effect of amino acid substitutions and indels. Transl Cancer Res. 2022;11(1):193-205.
Bioinformatics. 2015;31(16):2745-2747. doi: 10.21037/tcr-21-1601
doi: 10.1093/bioinformatics/btv195 29. Ganesh K, Stadler ZK, Cercek A, et al. Immunotherapy in
20. Niroula A, Urolagin S, Vihinen M. PON-P2: Prediction colorectal cancer: Rationale, challenges and potential. Nat
method for fast and reliable identification of harmful Rev Gastroenterol Hepatol. 2019;16(6):361-375.
variants. PLoS One. 2015;10(2):e0117380. doi: 10.1038/s41575-019-0126-x
doi: 10.1371/journal.pone.0117380 30. Ros J, Baraibar I, Saoudi N, et al. Immunotherapy for
21. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding colorectal cancer with high microsatellite instability:
non-synonymous variants on protein function using the The ongoing search for biomarkers. Cancers (Basel).
SIFT algorithm. Nat Protoc. 2009;4(7):1073-1081. 2023;15(17):4245.
doi: 10.1038/nprot.2009.86 doi: 10.3390/cancers15174245
22. Ham-Karim HA, Ebili HO, Bradshaw K, et al. Targeted next 31. Maas EJ, Betz-Stablein B, Aoude LG, Soyer HP, McInerney-
generation sequencing reveals a common genetic pathway Leo AM. Unusual suspects in hereditary melanoma: POT1,
for colorectal cancers with chromosomal instability and POLE, BAP1. Trends Genet. 2022;38(12):1204-1207.
those with microsatellite and chromosome stability. Pathol doi: 10.1016/j.tig.2022.06.007
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