Polymorphisms of and Genes in Ovarian Cancer and Treatment Response in Poles.

Background/aim: Ovarian cancer is a lethal gynecological malignancy, with 5-year survival of only about one third of patients. The ABCB1 gene encodes the P-glycoprotein which is one of the multidrug efflux pumps. Its decreased activity may result in multidrug resistance of cancer cells.

The BCL-2 protein in precursor B acute lymphoblastic leukemia in children.

The BCL-2 protein plays an important role in controlling apoptosis. Disorders of this process can lead to the emergence and development of acute lymphoblastic leukemia (ALL) and can determine the resistance of leukemic cells to chemotherapy. The levels of BCL-2 mRNA were determined in 20 children with pre-B ALL using RT-polymerase chain reaction and the percentage of BCL-2+ cells in 51 patients using flow cytofluorometry.

p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

Germline p53 mutations are associated with Li-Fraumeni syndrome (LFS) and other familial cancer phenotypes not fulfilling the definition for LFS. The majority of germline p53 mutations cluster in exons 5-8, corresponding to a DNA binding domain. We report the identification of two germline mutations and a somatic mutation in a tetramerization domain (TD), a rare site for mutations.

[Mean level of expression of c-myb gene in leukaemia of children].

Aim Of The Study: Measurement of c-myb expression in leukaemia cells in children and in normal cells of healthy controls.

Material And Methods: 37 patients, 23 boys and 14 girls with acute leukaemia, aged 1-17 years, were included in the study (32 with acute lymphoblastic leukaemia and 5 with acute myeloblasts leukaemia) Control group consisted of 17 healthy children, 8 boys and 9 girls, 4-18 years old. After the isolation of mononuclear cells from bone marrow I peripheral blood mRNA was isolated, then with the use of reverse transcriptase cDNA was synthesized.

Evidence for selective expression of the p53 codon 72 polymorphs: implications in cancer development.

Polymorphism at codon 72 of p53 results in either the arginine or proline form of p53, whose functional significance in carcinogenesis is controversial. We have investigated if the expression of these p53 polymorphs is selectively regulated, using mRNA from peripheral blood of healthy Asian (Chinese) and the Caucasian (Polish) arginine/proline (arg/pro) heterozygote subjects. Asians were found to preferentially express the pro allele whereas the Caucasians preferentially express the arg allele.

A high proportion of founder BRCA1 mutations in Polish breast cancer families.

Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRCA mutations distributed throughout the country. This question has important implications for health policy and the design of epidemiologic studies.

Is p53 intronic variant G13964C associated with predisposition to cancer?

Germline mutations of the p53 gene confer a high risk of diverse malignancies. The highest frequency of inherited p53 defects was noted in Li-Fraumeni syndrome (LFS), but almost half of the mutations were found in families with incomplete Li-Fraumeni-like syndrome (LFL), including familial breast cancer cases. Recently, a germline intronic G13964C base change of the p53 was reported as a high-risk mutation associated with familial breast cancer (LEHMAN et al.

Results of p53 analysis in pediatric malignancies in Poland.

Background: Mutations of the p53 gene are thought to be causally associated with the development of various neoplasms. In tumors overexpressing the wild-form of p53, its functional inactivation has been suggested, and MDM2 seems to be important in this process. We analyzed p53 in childhood solid tumors, as data on pediatric malignancies are still limited.