XPD/ERCC2 EXON 8 Polymorphisms: rarity and lack of significance in risk of squamous cell carcinoma of the head and neck.
BACKGROUND
Inherited polymorphisms of DNA repair genes may contribute to genetic susceptibility to squamous cell carcinoma of the head and neck (SCCHN). The objective was to assess whether two polymorphisms in the nucleotide excision repair gene XPD (ERCC2) are markers of SCCHN risk.


METHODS
We performed a hospital-based case-control study of 180 SCCHN patients and 400 cancer-free controls frequency matched on age, sex, smoking, and alcohol use. All subjects were non-Hispanic whites. XPD alleles 23047 and 23051 were assessed by digestion with the restriction enzymes XhoII and SphI after PCR amplification.


RESULTS
The XPD 23047 G and XPD 23051 T alleles were extremely rare among both the cases and controls (allele frequencies<1.0%), and not statistically different between groups (P>0.6).


CONCLUSIONS
The 23047 and 23051 variants of the DNA repair gene XPD are extremely rare and do not contribute significantly to the risk of SCCHN in the non-Hispanic white population.
Department of Head and Neck Surgery, Box 441, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston 77030-4009, USA. esturgis@notes.mdacc.tmc.edu
Erich M
EM
Sturgis
Edward J
EJ
Castillo
Lei
L
Li
Susan A
SA
Eicher
Sara S
SS
Strom
Margaret R
MR
Spitz
Qingyi
Q
Wei
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D004265:DNA Helicases; D004268:DNA-Binding Proteins; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors; D051759:Xeroderma Pigmentosum Group D Protein
D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D011506:Proteins; D014157:Transcription Factors; D004265:DNA Helicases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human