PMID- 23982724
OWN - NLM
STAT- MEDLINE
DCOM- 20140407
LR  - 20220310
IS  - 1791-2431 (Electronic)
IS  - 1021-335X (Linking)
VI  - 30
IP  - 5
DP  - 2013 Nov
TI  - The role of CCNH Val270Ala (rs2230641) and other nucleotide excision repair 
      polymorphisms in individual susceptibility to well-differentiated thyroid cancer.
PG  - 2458-66
LID - 10.3892/or.2013.2702 [doi]
AB  - Well-differentiated thyroid cancer (DTC) is the most common form of thyroid 
      cancer (TC); however, with the exception of radiation exposure, its etiology 
      remains largely unknown. Several single nucleotide polymorphisms (SNPs) have 
      previously been implicated in DTC risk. Nucleotide excision repair (NER) 
      polymorphisms, despite having been associated with cancer risk at other 
      locations, have received little attention in the context of thyroid 
      carcinogenesis. In order to evaluate the role of NER pathway SNPs in DTC 
      susceptibility, we performed a case-control study in 106 Caucasian Portuguese DTC 
      patients and 212 matched controls. rs2230641 (CCNH), rs2972388 (CDK7), rs1805329 
      (RAD23B), rs3212986 (ERCC1), rs1800067 (ERCC4), rs17655, rs2227869 (ERCC5), 
      rs4253211 and rs2228529 (ERCC6) were genotyped using TaqMan(R) methodology, while 
      conventional PCR-RFLP was employed for rs2228000 and rs2228001 (XPC). When 
      considering all DTC cases, only rs2230641 (CCNH) was associated with DTC risk; a 
      consistent increase in overall DTC risk was observed for both the heterozygous 
      genotype (OR=1.89, 95% CI=1.14-3.14) and the variant allele carriers (OR=1.79, 
      95% CI=1.09-2.93). Histological stratification analysis confirmed an identical 
      effect on follicular TC (OR=2.72, 95% CI=1.19-6.22, for heterozygous; OR=2.44, 
      95% CI=1.07‑5.55, for variant allele carriers). Considering papillary TC, the 
      rs2228001 (XPC) variant genotype was associated with increased risk (OR=2.33, 95% 
      CI=1.05-5.16), while a protective effect was observed for rs2227869 (ERCC5) 
      (OR=0.26, 95% CI=0.08‑0.90, for heterozygous; OR=0.25, 95% CI=0.07-0.86, for 
      variant allele carriers). No further significant results were observed. Our 
      results suggest that NER polymorphisms such as rs2230641 (CCNH) and, possibly, 
      rs2227869 (ERCC5) and rs2228001 (XPC), may influence DTC susceptibility. However, 
      larger studies are required to confirm these results.
FAU - Santos, Luis S
AU  - Santos LS
AD  - Department of Genetics, Faculty of Medical Sciences, Universidade Nova de Lisboa 
      (UNL), Lisbon, Portugal.
FAU - Gomes, Bruno C
AU  - Gomes BC
FAU - Gouveia, Rita
AU  - Gouveia R
FAU - Silva, Susana N
AU  - Silva SN
FAU - Azevedo, Ana P
AU  - Azevedo AP
FAU - Camacho, Vanessa
AU  - Camacho V
FAU - Manita, Isabel
AU  - Manita I
FAU - Gil, Octavia M
AU  - Gil OM
FAU - Ferreira, Teresa C
AU  - Ferreira TC
FAU - Limbert, Edward
AU  - Limbert E
FAU - Rueff, Jose
AU  - Rueff J
FAU - Gaspar, Jorge F
AU  - Gaspar JF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130827
PL  - Greece
TA  - Oncol Rep
JT  - Oncology reports
JID - 9422756
RN  - 0 (CCNH protein, human)
RN  - 0 (Cyclin H)
RN  - 0 (DNA excision repair protein ERCC-5)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 3.1.- (Endonucleases)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Case-Control Studies
MH  - Cyclin H/*genetics
MH  - DNA Repair/*genetics
MH  - DNA-Binding Proteins/genetics
MH  - Endonucleases/genetics
MH  - Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Middle Aged
MH  - Nuclear Proteins/genetics
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Risk Factors
MH  - Thyroid Neoplasms/*genetics/pathology
MH  - Transcription Factors/genetics
EDAT- 2013/08/29 06:00
MHDA- 2014/04/08 06:00
CRDT- 2013/08/29 06:00
PHST- 2013/05/03 00:00 [received]
PHST- 2013/07/05 00:00 [accepted]
PHST- 2013/08/29 06:00 [entrez]
PHST- 2013/08/29 06:00 [pubmed]
PHST- 2014/04/08 06:00 [medline]
AID - 10.3892/or.2013.2702 [doi]
PST - ppublish
SO  - Oncol Rep. 2013 Nov;30(5):2458-66. doi: 10.3892/or.2013.2702. Epub 2013 Aug 27.