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>
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Middle Aged , Asian People , Genetics , Breast Neoplasms , Genetics , Pathology , Genetic Predisposition to Disease , Genetics , Genotype , Haplotypes , Linkage Disequilibrium , Polymorphism, Single Nucleotide , Genetics , Promoter Regions, Genetic , GeneticsABSTRACT
Objective To investigate the clinical value of damage control resuscitation ( DCR) in the treatment of severe multiple injuries combined with traumatic hemorrhagic shock. Methods A retrospective analysis was done on 27 patients with severe multiple injuries combined with traumatic hemorrhagic shock treated by DCR. Another 32 patients treated with traditional aggressive/normotensive fluid resuscitation were used as control. Lactic acid clearance time, coagulation, diffuse intravascular coagulation (DIC) morbidity, and mortality were observed and compared between two groups. Results Compared with traditional aggressive/normotensive fluid resuscitation, DCR had better curative effect, shorter clearance time of lactic acid, more rapid recovery of blood coagulation function and lower incidence of DIC morbidity and lower mortality for patients with severe multiple injuries combined with traumatic hemorrhagic shock. Conclusions In the treatment of severe multiple injuries combined with traumatic hemorrhagic shock, the use of DCR can remarkably improve the survival rate of patients and also provide a new way for resuscitation and rescue of other types of shock patients.