BRCA2 promoter polymorphism is associated with breast cancer prognosis in Chinese women / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 2012-2015, 2014.
Article
in English
| WPRIM
| ID: wpr-248056
ABSTRACT
<p><b>BACKGROUND</b>Breast cancer 2 (BRCA2) is an important breast cancer-susceptibility gene. Promoter polymorphisms in BRCA2 may affect its transcription and be associated with cancer prognosis.</p><p><b>METHODS</b>We identified five polymorphisms of the BRCA2 promoter region by in silico searching and direct sequencing -254A/G (rs3092989), -908A/G (rs206117), -1134A/G (rs206115), -1144C/T (rs206116), and -1260CTTAGA/- (rs3072036). The -908A/G, -1134A/G, -1144C/T, and -1260CTTAGA/- polymorphisms were genotyped by direct sequencing in 491 breast cancer patients, and the -254A/G polymorphism was genotyped by Sequenom.</p><p><b>RESULTS</b>The -1144C/T polymorphism was associated with clinical outcome. Carriers of the TT genotype had longer disease-free intervals (DFIs, P = 0.029), especially among patients with sporadic unilateral breast cancer (P = 0.010). Linkage disequilibrium (LD) analysis showed that all the five single nucleotide polymorphisms (SNPs) were in LD (D' > 0.8). Carriers of haplotypes containing the -1144T allele showed longer DFIs (P = 0.049), and the result was more significant in patients with sporadic unilateral cancer (P = 0.018). There were no significant associations between the other polymorphisms and DFI.</p><p><b>CONCLUSIONS</b>The results of this study suggest that homozygosity for the BRCA2 T(-1144) allele is associated with a longer DFI in Chinese women with breast cancer. Further functional studies are warranted to clarify this relationship.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Haplotypes
/
Breast Neoplasms
/
Linkage Disequilibrium
/
Promoter Regions, Genetic
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Asian People
/
Genetics
/
Genotype
Type of study:
Prognostic study
Limits:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
Language:
English
Journal:
Chinese Medical Journal
Year:
2014
Type:
Article
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