Page 132 - TD-4-1

Tumor Discovery MUTYH mutation in advanced rectal cancer with 5-FU resistance

doi: 10.1200/JCO.2007.14.9898 line treatment after single-agent fluoropyrimidine therapy
15. Ducreux M, Bennouna J, Hebbar M, et al. Capecitabine for metastatic colorectal carcinoma. J Clin Oncol. 2008;26:
plus oxaliplatin (XELOX) versus 5-fluorouracil/leucovorin 4544-4550.
plus oxaliplatin (FOLFOX-6) as first-line treatment for doi: 10.1200/JCO.2008.17.1249
metastatic colorectal cancer. Int J Cancer. 2011;128:682-690.
23. Cleary SP, Cotterchio M, Jenkins MA, et al. Germline
doi: 10.1002/ijc.25369 MutY human homologue mutations and colorectal
16. Douillard JY, Siena S, Cassidy J, et al. Final results from cancer: A multisite case-control study. Gastroenterology.
PRIME: Randomized phase III study of panitumumab with 2009;136:1251-1260.
FOLFOX4 for first-line treatment of metastatic colorectal doi: 10.1053/j.gastro.2008.12.050
cancer. Ann Oncol. 2014;25:1346-1355.
24. Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R.
doi: 10.1093/annonc/mdu141
Characterization of mutant MUTYH proteins associated
17. Douillard JY, Siena S, Cassidy J, et al. Randomized, phase with familial colorectal cancer. Gastroenterology.
III trial of panitumumab with infusional fluorouracil, 2008;135:499-507.
leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4
alone as first-line treatment in patients with previously doi: 10.1053/j.gastro.2008.04.035
untreated metastatic colorectal cancer: The PRIME study. 25. Taki K, Sato Y, Nomura S, et al. Mutation analysis of MUTYH
J Clin Oncol. 2010;28:4697-4705. in Japanese colorectal adenomatous polyposis patients. Fam
doi: 10.1200/JCO.2009.27.4860 Cancer. 2016;15:261-265.
18. Beretta GD, Petrelli F, Stinco S, et al. FOLFIRI+bevacizumab doi: 10.1007/s10689-015-9857-1
as second-line therapy for metastatic colorectal cancer 26. Thibodeau ML, Zhao EY, Reisle C, et al. Base excision
pretreated with oxaliplatin: A pooled analysis of published repair deficiency signatures implicate germline and somatic
trials. Med Oncol. 2013;30:486. MUTYH aberrations in pancreatic ductal adenocarcinoma
doi: 10.1007/s12032-013-0486-y and breast cancer oncogenesis. Cold Spring Harb Mol Case
Stud. 2019;5:a003681.
19. Jo H, Lee MS, Lee YP, et al. A comparison of folinic acid,
fluorouracil and irinotecan (FOLFIRI) plus bevacizumab doi: 10.1101/mcs.a003681
and FOLFIRI plus aflibercept as second-line treatment for 27. Tao H, Shinmura K, Hanaoka T, et al. A novel splice-site
metastatic colorectal cancer. Clin Oncol (R Coll Radiol).
2022;34:e323-e328. variant of the base excision repair gene MYH is associated
with production of an aberrant mRNA transcript encoding
doi: 10.1016/j.clon.2022.02.011 a truncated MYH protein not localized in the nucleus.
20. Iwamoto S, Takahashi T, Tamagawa H, et al. FOLFIRI Carcinogenesis. 2004;25:1859-1866.
plus bevacizumab as second-line therapy in patients with doi: 10.1093/carcin/bgh206
metastatic colorectal cancer after first-line bevacizumab
plus oxaliplatin-based therapy: The randomized phase III 28. Miyaki M, Iijima T, Yamaguchi T, et al. Germline mutations
EAGLE study. Ann Oncol. 2015;26:1427-1433. of the MYH gene in Japanese patients with multiple
colorectal adenomas. Mutat Res. 2005;578:430-433.
doi: 10.1093/annonc/mdv197
doi: 10.1016/j.mrfmmm.2005.01.017
21. Information NCfB. ClinVar; [VCV000041766.57]. Available
from: https://www.ncbi.nlm.nih.gov/clinvar/variation/ 29. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive
VCV000041766.57 [Last accessed on 2023 Jun 02]. colorectal adenomatous polyposis due to inherited
mutations of MYH. Lancet. 2003;362:39-41.
22. Haller DG, Rothenberg ML, Wong AO, et al. Oxaliplatin
plus irinotecan compared with irinotecan alone as second- doi: 10.1016/S0140-6736(03)13805-6

Volume 4 Issue 1 (2025) 124 doi: 10.36922/td.5164