PMID- 32338278
OWN - NLM
STAT- MEDLINE
DCOM- 20210329
LR  - 20210329
IS  - 1573-4935 (Electronic)
IS  - 0144-8463 (Print)
IS  - 0144-8463 (Linking)
VI  - 40
IP  - 5
DP  - 2020 May 29
TI  - Genetic polymorphisms as non-modifiable susceptibility factors to laryngeal 
      cancer.
LID - 10.1042/BSR20191188 [doi]
LID - BSR20191188
AB  - Laryngeal squamous cell carcinoma (LSCC) is a highly disabling disease to the 
      patient, affecting speech, swallowing and respiratory skills. Smoking and alcohol 
      abuse are principal risk factors linked to this disease. Genetic factors can be 
      involved in carcinogenesis by controlling the cell cycle, cell survival, 
      angiogenesis, and invasiveness. Single nucleotide polymorphisms (SNPs) involving 
      specific genes could modulate the risk of LSCC related to known carcinogens by 
      modifying cellular responses, but not all genetic associations are known. In a 
      case-control study, we assess the associations between cyclooxygenase-2 (COX2), 
      epidermal growth factor (EGF), EGF receptor (EGFR), and tumor suppressor P53 SNPs 
      on the risk of LSCC development in the Chilean population. A total of 85 LSCC 
      patients and 95 healthy volunteers were recruited. SNPs genotype were analyzed 
      from genomic DNA by Polymerase Chain Reaction (PCR)-Restriction Fragment Length 
      Polymorphism (RFLP) and associations were estimated by odds ratios (ORs) using 
      unconditional logistic regressions. A significant association between COX2 and 
      TP53 SNP and LSCC risk was found, with an OR = 3.27 for COX2 c.-1329A>G 
      (rs689466) SNP, and an OR = 1.94 for TP53 c.215C>G, Pro72Arg (rs1042522) SNP. 
      These findings suggest that COX2 c.-1329A>G and TP53 c.215C>G (Pro72Arg) SNPs may 
      be risk factors for LSCC. Through this research, we identify two low penetrance 
      genetic variants that may be evaluated as novel biomarkers for this disease, in 
      South American Mestizo populations.
CI  - (c) 2020 The Author(s).
FAU - Escalante, Paula
AU  - Escalante P
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Barria, Tamara
AU  - Barria T
AD  - Otorhinolaryngology Service, Barros Luco Hospital, Santiago, Chile.
FAU - Cancino, Miguel
AU  - Cancino M
AD  - Otorhinolaryngology Service, Barros Luco Hospital, Santiago, Chile.
FAU - Rahal, Maritza
AU  - Rahal M
AD  - Otorhinolaryngology Service, Barros Luco Hospital, Santiago, Chile.
FAU - Cerpa, Leslie
AU  - Cerpa L
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Sandoval, Christopher
AU  - Sandoval C
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Molina-Mellico, Sebastian
AU  - Molina-Mellico S
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Suarez, Marcelo
AU  - Suarez M
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Martinez, Matias
AU  - Martinez M
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Caceres, Dante Daniel
AU  - Caceres DD
AD  - School of Public Health, Faculty of Medicine, University of Chile, Santiago, 
      Chile.
AD  - Health Science Faculty, Tarapaca University, Iquique, Chile.
FAU - Quinones, Luis Abel
AU  - Quinones LA
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
FAU - Varela, Nelson Miguel
AU  - Varela NM
AD  - Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of 
      Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, 
      Chile & Latin American Network for the Implementation and Validation of Clinical 
      Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Biosci Rep
JT  - Bioscience reports
JID - 8102797
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (TP53 protein, human)
RN  - 0 (Tumor Suppressor Protein p53)
RN  - 62229-50-9 (Epidermal Growth Factor)
RN  - EC 1.14.99.1 (Cyclooxygenase 2)
RN  - EC 1.14.99.1 (PTGS2 protein, human)
RN  - EC 2.7.10.1 (EGFR protein, human)
RN  - EC 2.7.10.1 (ErbB Receptors)
SB  - IM
MH  - Aged
MH  - Alcohol Drinking/epidemiology
MH  - Biomarkers, Tumor/*genetics
MH  - Case-Control Studies
MH  - Chile/epidemiology
MH  - Cigarette Smoking/epidemiology
MH  - Cyclooxygenase 2/genetics
MH  - Epidermal Growth Factor/genetics
MH  - ErbB Receptors/genetics
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Laryngeal Neoplasms/epidemiology/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Risk Factors
MH  - Squamous Cell Carcinoma of Head and Neck/epidemiology/*genetics
MH  - Tumor Suppressor Protein p53/genetics
PMC - PMC7201556
OTO - NOTNLM
OT  - Biomarkers
OT  - EGF
OT  - EGFR
OT  - Genomics
OT  - Laryngeal cancer
OT  - PTGS2
OT  - Polymorphism
OT  - TP53
COIS- The authors declare that there are no competing interests associated with the 
      manuscript. The present study was approved by the Ethics Committee for Human 
      Research at the Faculty of Medicine of the University of Chile (January 2012) and 
      was performed following the Declaration of Helsinki and GCP. The datasets used 
      and/or analyzed in the present study are available on reasonable request to the 
      corresponding authors.
EDAT- 2020/04/28 06:00
MHDA- 2021/03/30 06:00
PMCR- 2020/05/05
CRDT- 2020/04/28 06:00
PHST- 2019/04/25 00:00 [received]
PHST- 2020/04/07 00:00 [revised]
PHST- 2020/04/16 00:00 [accepted]
PHST- 2020/04/28 06:00 [pubmed]
PHST- 2021/03/30 06:00 [medline]
PHST- 2020/04/28 06:00 [entrez]
PHST- 2020/05/05 00:00 [pmc-release]
AID - 222773 [pii]
AID - BSR20191188 [pii]
AID - 10.1042/BSR20191188 [doi]
PST - ppublish
SO  - Biosci Rep. 2020 May 29;40(5):BSR20191188. doi: 10.1042/BSR20191188.