Genetic variations in DNA repair may impact repair functions, DNA damage and breast cancer risk. Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. In Caucasians, breast cancer risk was significantly associated with ADPRT 762VV [odds ratio (OR) = 1.45; 95% confidence interval (CI) = 1.03, 2.03], APE1 148DD (OR = 1.44; 95% CI = 1.03, 2.00), MLH1 219II/IV (OR = 1.87; 95% CI = 1.11, 3.16) and ERCC4 415QQ (OR = 8.64; 95% CI = 1.04, 72.02) genotypes. With a limited sample size, we did not observe any significant association in African-Americans. However, there were significant trends in breast cancer risk with increasing numbers of risk genotypes for ADPRT 762VV, APE1 148DD, ERCC4 415RQ/QQ and MLH1 219II/IV (P(trend) < 0.001) in Caucasians and ADPRT 762VA, ERCC2 751KQ/QQ and NBS1 185EQ/QQ in African-Americans (P(trend) = 0.006), respectively. Our results suggest that combined nsSNPs in multiple DNA repair pathways may contribute to breast cancer risk and larger studies are warranted to further evaluate polygenic models of DNA repair in breast cancer risk.
TER of ASB malignancy is associated with a decreased hospital stay and faster recovery when compared to open CFR. Lower local recurrence rate in the TER group may reflect a discrepancy in histology and clinical stage. We found no significant differences in survival, metastatic, or complication rates in the two groups, whereas patients in the TER group had the added benefit of a desirable cosmetic outcome. Overall, TER seems to be an excellent alternative to CFR in properly selected cases.
INTRODUCTION-A proposed mechanism for presbycusis is a significant increase in oxidative stress in the cochlea. The enzymes glutathione s-transferase (GST) and N-acetyltransferase (NAT) are two classes of antioxidant enzymes active in the cochlea.
With its excellent contrast and spatial resolution, and the ability to image in real-time, ultrasound is the main imaging modality for assessing the gallbladder (GB). The application of contrast-enhanced ultrasound (CEUS) of the GB is now increasingly recognized as a useful addition to ultrasound and other cross-sectional imaging in the assessment of neoplastic and non-neoplastic GB disease. With the ability to image microcirculation and optimal contrast resolution, CEUS allows high-quality delineation in real-time, allowing for increased diagnostic confidence. In addition, ultrasound contrast agents have a favorable safety profile and can be used if CT or MR contrast agents are contraindicated or undesired. In this review, the CEUS appearances of a range of GB diseases encountered are presented, including adenomyomatosis, polyps, carcinoma, sludge, and cholecystitis with mural ulceration or perforation.
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