Page 131 - TD-4-1
P. 131
Tumor Discovery MUTYH mutation in advanced rectal cancer with 5-FU resistance
also compliment the multidisciplinary teams for the good Guidelines for hereditary nonpolyposis colorectal cancer
clinical decisions made for this patient. (Lynch syndrome) and microsatellite instability. J Natl
Cancer Inst. 2004;96:261-268.
Funding doi: 10.1093/jnci/djh034
None. 6. Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer
syndromes. Oncogene. 2004;23:6445-6470.
Conflict of interest
doi: 10.1038/sj.onc.1207714
The authors declare they have no competing interests.
7. Takao M, Zhang QM, Yonei S, Yasui A. Differential
Author contributions subcellular localization of human MutY homolog (hMYH)
and the functional activity of adenine:8-oxoguanine DNA
Conceptualization: Tawasapon Thambamroong glycosylase. Nucleic Acids Res. 1999;27:3638-3644.
Formal analysis: Tawasapon Thambamroong
Investigation: All authors doi: 10.1093/nar/27.18.3638
Methodology: All authors 8. Shinmura K, Yamaguchi S, Saitoh T, et al. Adenine
Writing – original draft: Tawasapon Thambamroong excisional repair function of MYH protein on the adenine:8-
Writing – review & editing: Tawasapon Thambamroong hydroxyguanine base pair in double-stranded DNA. Nucleic
Acids Res. 2000;28:4912-4918.
Ethics approval and consent to participate doi: 10.1093/nar/28.24.4912
Not applicable. 9. Lubbe SJ, Di Bernardo MC, Chandler IP, Houlston RS.
Clinical implications of the colorectal cancer risk associated
Consent for publication with MUTYH mutation. J Clin Oncol. 2009;27:3975-3980.
The patient’s next of kin provided consent for the doi: 10.1200/JCO.2008.21.6853
publication of this case report.
10. Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF,
Availability of data Miller JH. Cloning and sequencing a human homolog
(hMYH) of the Escherichia coli mutY gene whose function is
Not applicable. required for the repair of oxidative DNA damage. J Bacteriol.
1996;178:3885-3892.
Reference
doi: 10.1128/jb.178.13.3885-3892.1996
1. Sung H, Ferlay J, Siegel RL, et al. Global cancer statistics
2020: GLOBOCAN estimates of incidence and mortality 11. Ohtsubo T, Nishioka K, Imaiso Y, et al. Identification of
worldwide for 36 cancers in 185 countries. CA Cancer J Clin. human MutY homolog (hMYH) as a repair enzyme for
2021;71:209-249. 2-hydroxyadenine in DNA and detection of multiple forms
of hMYH located in nuclei and mitochondria. Nucleic Acids
doi: 10.3322/caac.21660 Res. 2000;28:1355-1364.
2. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. doi: 10.1093/nar/28.6.1355
Hereditary and familial colon cancer. Gastroenterology.
2010;138:2044-2058. 12. Jones S, Lambert S, Williams GT, Best JM, Sampson JR,
Cheadle JP. Increased frequency of the k-ras G12C mutation
doi: 10.1053/j.gastro.2010.01.054 in MYH polyposis colorectal adenomas. Br J Cancer.
3. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, 2004;90:1591-1593.
Boland CR. Review of the Lynch syndrome: History, doi: 10.1038/sj.bjc.6601747
molecular genetics, screening, differential diagnosis, and
medicolegal ramifications. Clin Genet. 2009;76:1-18. 13. Nielsen M, de Miranda NF, van Puijenbroek M, et al.
Colorectal carcinomas in MUTYH-associated polyposis
doi: 10.1111/j.1399-0004.2009.01230.x display histopathological similarities to microsatellite
4. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical unstable carcinomas. BMC Cancer. 2009;9:184.
criteria for hereditary nonpolyposis colorectal cancer doi: 10.1186/1471-2407-9-184
(HNPCC, Lynch syndrome) proposed by the International
Collaborative group on HNPCC. Gastroenterology. 14. Cassidy J, Clarke S, Diaz-Rubio E, et al. Randomized phase
1999;116:1453-1456. III study of capecitabine plus oxaliplatin compared with
fluorouracil/folinic acid plus oxaliplatin as first-line therapy
doi: 10.1016/s0016-5085(99)70510-x for metastatic colorectal cancer. J Clin Oncol. 2008;26:
5. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda 2006-2012.
Volume 4 Issue 1 (2025) 123 doi: 10.36922/td.5164

