Predictive value of genetic variants XRCC1 rs1799782, APEX1 rs1760944, and MUTYH rs3219489 for adjuvant concurrent chemoradiotherapy outcomes in oral squamous cell carcinoma patients.
Adult
Carcinoma, Squamous Cell
/ diagnosis
Chemoradiotherapy
/ methods
DNA Glycosylases
/ genetics
DNA-(Apurinic or Apyrimidinic Site) Lyase
/ genetics
Follow-Up Studies
Genetic Variation
/ genetics
Humans
Male
Middle Aged
Mouth Neoplasms
/ diagnosis
Predictive Value of Tests
Treatment Outcome
X-ray Repair Cross Complementing Protein 1
/ genetics
Journal
The pharmacogenomics journal
ISSN: 1473-1150
Titre abrégé: Pharmacogenomics J
Pays: United States
ID NLM: 101083949
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
30
05
2019
accepted:
18
05
2020
revised:
10
05
2020
pubmed:
29
5
2020
medline:
3
9
2021
entrez:
29
5
2020
Statut:
ppublish
Résumé
Genetic variations in DNA base excision repair (BER) genes may affect tumor sensitivity to chemotherapy and radiotherapy. Thus, we investigated the effects of single-nucleotide polymorphisms (SNPs) in key BER pathway genes on clinical outcomes in male patients who received concurrent chemoradiotherapy (CCRT). Seven SNPs from XRCC1, OGG1, APEX1, and MUTYH were genotyped using the Sequenom iPLEX MassARRAY system in samples from 319 men with advanced oral squamous cell carcinoma. The disease-free survival (DFS) rates of the MUTYH rs3219489 genotypes and those of the other genotypes differed significantly (log-rank test p = 0.027). Multivariate Cox proportional hazard analysis showed that the MUTYH rs3219489 GG genotype was associated with poor DFS (recessive model: hazard ratio [HR] = 2.01, 95% confidence interval [CI] = 1.31-3.10; p = 0.002). The CT + TT genotypes of XRCC1 rs1799782 (dominant model: HR = 0.65, 95% CI = 0.43-0.99; p = 0.044) and GG genotype of APEX1 rs1760944 (recessive model: HR = 1.64, 95% CI = 1.00-2.70; p = 0.050) were associated with overall survival (OS). Carrying the two risk genotypes, CC and GG of XRCC1 rs1799782 and APEX1 rs1760944, respectively, (HR = 2.95, 95% CI = 1.47-5.88; p = 0.002) increased mortality risk. Our findings showed that carrying the two risk genotypes of XRCC1 rs1799782 and APEX1 rs1760944 was associated with poor OS, while the GG genotype of MUTYH rs3219489 was associated with poor DFS. Patients carrying the risk genotypes may not benefit from CCRT; therefore, they will need alternative treatments.
Identifiants
pubmed: 32461665
doi: 10.1038/s41397-020-0170-5
pii: 10.1038/s41397-020-0170-5
doi:
Substances chimiques
X-ray Repair Cross Complementing Protein 1
0
XRCC1 protein, human
0
DNA Glycosylases
EC 3.2.2.-
mutY adenine glycosylase
EC 3.2.2.-
APEX1 protein, human
EC 4.2.99.18
DNA-(Apurinic or Apyrimidinic Site) Lyase
EC 4.2.99.18
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
813-822Références
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