Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

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 material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families

The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

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 types of cancer in the Szczecin region between 1994 and 2004. Significant associations were found for colon cancer (OR = 1.8; 95% CI 1.2 to 2.6), for lung cancer (OR = 1.7; 95% CI = 1.1 to 2.5) and for ovarian cancer (OR = 1.6; 95% CI 1.1 to 2.3). In addition, a significant association was found for early-onset laryngeal cancer (OR = 2.9; 95% CI 1.4 to 6.2) and for breast cancer in the presence of DCIS (OR = 2.1 95% CI = 1.2 to 3.6). The NOD2 3020insC allele is relatively common (in Poland 7.3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles

Geomorphology of Ius Chasma, Valles Marineris, Mars

<p>Cartographic products of the Martian trough system, Valles Marineris, are useful to identify the diversity and complexity of geological activity that has occurred there. A huge fraction of the processes that have shaped the surface of Mars are also concentrated there. A geomorphological map of Ius Chasma in western Valles Marineris is presented. The map is published in three sheets at 1:260,000. It was drawn on the basis of 100 Mars Reconnaissance Orbiter’s Context Camera images of 12 m/pixel resolution, mosaiced using the USGS ISIS Planetary Image Processing Software, and subsequently mapped and interpreted for geomorphology in ArcGIS. The map displays 52 main geomorphological units of which some are further subdivided. They include both well-established features (e.g. spur-and-gully morphology on trough walls, landslide scars, and deposits), and newly reported landforms (e.g. alluvial fans with dendritic channels, moraines in western Ius Chasma). The proposed classifications of landslide deposits, glacial landforms, and floor areas are more detailed than on any previous map of Valles Marineris. The Ius Chasma map is the first cartographic product presenting a full inventory of dune fields, impact craters, light-toned outcrops, and mass-wasting features.</p

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers––low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes—99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67

Participants and initiatives in planetary cartography

Planetary cartography forms an integral part of cartography and has found its manifestation in governmental activities, community efforts, professional organizations, and commercial activities. These activities substantiated with the revival of planetary exploration in the early 2000s when Europe visited the Moon for the first time, and the USA launched a number of exploration missions. With the success of Asian spacecraft missions to the Moon and Mars joining the global planetary exploration endeavor, planetary mapping is increasingly becoming a global collaborative effort, and planetary cartography being one of its main tools to accomplish the goals. This chapter introduces institutes and groups working in the field of planetary cartography and mapping. Some of them have a long history in planetary cartography, while others represent more recent efforts. Their activities are usually organized on a national level, but they are internationally related to each other through research cooperation and collaborative projects. This overview should provide a cross section covering main institutions as well as groups and initiatives. However, it does not qualify to be complete in listing all active organizations and groups