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Polymorphisms of the ABCB1 (MDR1) and ABCG2 (BCRP) genes were reported to alter the expression and function of these drug transporters. Both proteins are present at the main pharmacokinetic barriers including the blood-brain barrier. Data from 291 children with acute lymphoblastic leukaemia were analysed in this retrospective study. ABCB1 3435T>C,(More)
HINTERGRUND: Die klassische Galaktosämie ist eine autosomal rezessiv vererbte Erkrankung, die durch eine gestörte Aktivität der Galactose-1-phosphat-Uridyltransferase verursacht wird und die im Rahmen eines Neugeborenen-Screenings erkannt werden kann. In Ungarn wurde das Neugeborenen-Screening 1976 eingeführt, es wird in 2 Zentren durchgeführt. Ziel der(More)
INTRODUCTION Hereditary Non-polyposis Colorectal Carcinoma is the most frequent genetic disease leading to colon and other malignancies. Recognizing the condition requires extensive family history going back several generations focusing particularly on the types of tumors occurring in the family at different age groups. METHODS In families who met the(More)
To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with(More)
Much is known about the role of germline inactivation in mismatch repair (MMR) genes in hereditary non-polyposis colorectal cancer (HNPCC), but the impact of somatic MMR gene changes on sporadic colorectal cancer remains to be elucidated. In hereditary cases the hMLHl and hMSH2 genes were shown to have a great importance, and in order to examine the somatic(More)
In Hungary the national newborn screening programme for the detection of biotinidase deficiency was launched in 1989. In this study, we determined the genotypes of all patients identified at the Budapest Screening Centre that covers half of the country. The incidence of the disorder in Western Hungary is about three times the worldwide incidence. Overall,(More)
The Bethesda guidelines may offer more useful criteria in patients’ selection for germline mismatch repair gene mutation analysis than guidelines merely based on family background. An early onset double primary colorectal cancer patient with poor family history with MSI-H status was investigated for MLH1 promoter methylation, expression of the MLH1 and MSH2(More)
We examined the association of functional ABCB1 (MDR1) and ABCG2 (BCRP) polymorphisms with acute side effects of chemotherapy. Analyses were performed on clinical data from 138 patients treated with the ALL-BFM-95 protocol implying several substrates of these transporters. ABCB1 3435T>C, 2677G>T/A 1236C>T and ABCG2 421C>A genotypes were determined. A higher(More)
The role of germline inactivation of the adenomatosis polyposis coli (APC) gene in hereditary colorectal cancer is well known, being the most important cause of familial adenomatosus polyposis (FAP) syndrome. Hereditary cases with germline mutations, however, account only for 5–10% of colorectal cancers. The somatic inactivation of this gene has also been(More)