Genetic epidemiology

Haplotype block for defining the linkage between polymorphisms in one gene

The goal has been to provide datasets for a reliable estimation in specific cancers of familial cancer risks, genetic and environmental components and modes of inheritance, and, additionally, to identify individuals in families for molecular studies of cancer. It has been used to characterize familial effects at all main and individual cancer sites, such breast, prostate, ovary and skin, and to assess environmental effects by comparing cancer risks among spouses. Several modelling studies have been carried out to test recessive and polygenic effects in cancer.

Molecular biology-mutations

Mutation analysis by sequencing

The aim is to identify genes that underlie cancer susceptibility. Some 1000 samples have been collected, pathology assessed and prepared for PCR from familial cancers. A major effort has been directed to analysis of polymorphisms (SNPs) in cancer-related genes. For this purpose case-control studies have been carried out on many cancer, including breast and bladder cancer. In breast cancer a collection of familial cases and controls has been done. Affymetrix GeneChip technology is being used to map susceptibility loci in familial breast cancer. The role of BRAF and RAS has been elucidated in melanoma and other neoplasms. In melanoma, microsatellite mapping has been carried out on selected chromosomes, also analysed for mutations in candidate genes (CDKN2A). In melanoma, the G1/S cell cycle checkpoint regulators have frequent abnormalities. Two polymorphisms in the 3’-untranslated region of the p16 gene were found to be prognostic factors and this study has also been extended to bladder cancer. A tissue bank of 600 consecutive bladder cancers has been used in the analysis of homozygous deletions and mutations at the p16 gene locus and correlated with clinical markers. Data from genetic epidemiology are being analysed in order to find evidence for recessive effects in cancer. In early onset lung and renal cancer recessive effects are likely and susceptibility loci are mapped using the GeneChip technology.

EUNAM - EU and North African Migrants: Health and Health Systems

The coordinates of human health are complex even in a single population but they are even more complex in migrants whose life situation is always influenced by the host country and the country of origin. Some migrants may experience several host countries and some return to the country of origin. Thus it is important to survey well being, health status, disease panorama and use of health services of immigrants compared to the native population; such analyses would be incomplete without casting a view on the same indicators and parameters in the country of origin. Thus for this project we have collected a team of experts to cover health aspects of the full cycle of migration, viewing the health situation in Egypt, Tunisia, Algeria and Morocco as representatives of the Mediterranean North African (NA) partner countries, the origins of vast numbers of immigrants in EU. The EU partner countries from France, Italy, Germany (subcontracting Slovenia) and Sweden are not only receivers of the NA immigrants but they also have larger numbers of immigrants from others areas, allowing comparisons between immigrant groups. The team has experience on a variety of health and disease measures and it has an access to a variety of survey and register material relating to population health, disease patterns and function of health care systems. Many of the surveys and diseases registers have been carried out/constructed by the present partners who thus possess unique sources of data. The team will be in the position to respond to the expectations of the call by reviewing health effects of migration from the country of origin to the host country and coming up with scientifically valid state-of-the-art evaluations and appropriate recommendations for scientific and health policy measures in improving the conditions for the EU immigrants.

For more information see:

to top