Influence of MSI and 18q LOH markers on capecitabine adjuvant monotherapy in colon cancer patients.

Purpose: The aim of this study was to evaluate whether pretreatment analysis of selected molecular markers can be used for the prediction of disease-free survival (DFS)/overall survival (OS) of capecitabine adjuvant monotherapy in colon cancer patients.

Patients And Methods: A total of 126 patients enrolled in a capecitabine Phase IV clinical trial were analyzed for microsatellite instability (MSI), 18q loss of heterozygosity (LOH), thymidylate synthase (TYMS) 5' variable number of tandem repeat (VNTR), and methylene tetrahydrofolate reductase (MTHFR) C677T variants. The significance in predicting 5-year DFS/OS was assessed by Kaplan-Meier and Cox regression analyses.

A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.

Aim: To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS).

Methods: We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia.

Results: We performed the very first genetic identification of LS families and characterized a novel mutation.

Promoter length polymorphism in UGT1A1 and the risk of sporadic colorectal cancer.

Uridine diphosphoglucuronate glucuronosyltransferase 1A1 (UGT1A1) is the key hepatic detoxification enzyme involved in the biotransformation of many carcinogens implicated in the development of colon, breast, and prostate cancers in humans. A polymorphism in the UGT1A1 promoter containing a TA-repeat element [(TA)5-8TAA] is involved in the modulation of UGT1A1 transcriptional activity. The wild-type activity is associated with the (TA)6TAA allele (UGT1A1*1), whereas UGT1A1 expression decreases with the increase of the TA-repeat number.