CHEK2 I157T and colorectal cancer in Bulgaria.

Purpose: Germline variants of the CHEK2 gene have been shown to act as low-penetrance cancer susceptibility alleles for a wide range of human malignancies. CHEK2 I157T has particularly been linked to colorectal cancer (CRC) risk. We aimed at establishing the population frequency and contribution of this variant to colorectal carcinogenesis in Bulgaria.

A case of exocrine-endocrine neoplasm of the pancreas in a patient with ulcerative colitis with literature review.

Until now only Japanese authors have reported 4 cases of pancreatic neoplasm associated with ulcerative colitis (UC). We report on a case of a 44-year-old woman who was operated on for complicated UC and an exocrine-endocrine neoplasm of the pancreas, where the endocrine component was presented by pancreatic polypeptide (PP)-producing cells. By means of molecular genetics methods we found microsatellite instability (MSI) in the markers D18S35, FGA and p53 in the colonic lining, and loss of heterozygosity (LOH) in the p53 marker in the pancreatic tumor.

Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family.

Aim: To present novel frameshift mutation c.31delC [p.L11X] in the MLH1 gene identified in an extended Bulgarian hereditary non-polyposis colorectal cancer (HNPCC) family and to analyze the molecular and clinical findings within the pedigree concerning the proposal of adequate individual prophylactic strategy for all mutation carriers.

Vitamin D and estrogen receptor gene polymorphisms and the risk of colorectal cancer in Bulgaria.

Background And Aims: Different epidemiological studies report the protective effect on colorectal cancer (CRC) exerted by vitamin D(3) intake, estrogen replacement therapy, and increase of the risk of microsatellite instability (MSI) in CRC by withdrawal of estrogens. The aim of our study was to search for association between CRC and polymorphisms in estrogen receptor-alpha (ER-alpha) and Vitamin D receptor (VDR) genes.

Materials And Methods: We analyzed the PvuII and XbaI polymorphisms from the ER-alpha gene and the BsmI polymorphism of the VDR gene in 140 patients with CRC (subsequently divided according to their MSI status) and 94 controls.

[A case of a 47 years old hydatid cyst of the liver].

This is a presentation of a clinical observation of a hydatid cyst of the liver, accidentally diagnosed 47 years before the first complains. There were no calcifications on the X-rays before the operation, besides the long duration of its existence. There were no complications before the surgery, and the operation and postoperative period were smooth.