Joanna Matyjasik

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The NOD2 gene has been associated with susceptibility to Crohn's disease and individuals with Crohn's disease are at increased risk for cancer at a number of organ sites. We studied the association between the 3020insC allele of the NOD2 gene and cancer among 2604 cancer patients and 1910 controls from Poland. Patients were diagnosed with one of twelve(More)
Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival(More)
1 1.. D DN NA A t te es st t b ba as se ed d o on n a an na al ly ys si is s o of f 3 30 02 20 0i in ns sC C i in n N NO OD D2 2 g ge en ne e 3020insC in the NOD2 gene increases the risk of: • breast cancer DCIS below age 50 about 5-fold – this mutation is detected in 8% of all breast cancer cases, • colorectal cancer approximately 2-fold above age 60 –(More)
There is continuing interest in identifying low-penetrance genes which are associated with increased susceptibility to common types of cancer. There are several approaches to this problem, including the use of chip-based single nucleotide polymorphism (SNP) arrays to interrogate a large number of genes simultaneously and pre-selecting candidate genes of(More)
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