Common genetic variants of TP53 and BRCA2 in esophageal cancer patients and healthy individuals from low and high risk areas of northern China.
TP53 and BRCA2 are frequently mutated in cancer and polymorphisms of these genes may modify cancer risk. We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53) and 5'UTR203G>A, N372H, and K1132K (BRCA2) polymorphisms in healthy Chinese subjects at varying risk for esophageal squamous cell carcinoma (ESCC) and in ESCC patients. Suggestive overall differences in the distributions of genotypes by risk groups were seen for all genotypes except K1132K. Differences in R72P and N372H were most likely a reflection of lack of Hardy-Weinberg equilibrium (HWE), however, the difference in 203G>A was due to low prevalence of GG in ESCC patients (0.22 versus 0.36 in high risk group (P=0.047), and 0.22 versus 0.40 in low risk group (P=0.010)), consistent with a disease association. These data suggest that the 203G>A polymorphism in BRCA2 may be associated with risk of ESCC.
Hu
Nan
N
Cancer Prevention Studies Branch, Center for Cancer Research, National Cancer Institute (NCI), 6116 Executive Blvd, Room 705, Bethesda, MD 20892, USA.
Li
Wen-Jun
WJ
Su
Hua
H
Wang
Chaoyu
C
Goldstein
A M
AM
Albert
P S
PS
Emmert-Buck
M R
MR
Kong
Li-Hui
LH
Roth
M J
MJ
Dawsey
S M
SM
He
Li-Ji
LJ
Cao
Shu-Fen
SF
Ding
Ti
T
Giffen
Carol
C
Taylor
P R
PR
D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002681:China; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D024522:Genes, BRCA2; D016158:Genes, p53 / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors