Description
Approximately 78,760 new cancer cases were estimated to occur in Romania in 2012, resulting in 48.260 deaths. In combination, cancers of the female breast, colon, rectum, prostate and lung represent almost half the overall burden of cancer. We propose a systematic evaluation of genetic risk factors associated with these cancer types, aiming to define high risk groups. We also aim to examine whether there is any effect modification of the genetic risk by ethnicity, focusing on the Roma ethnic group. At the end of the project, we will have profiled the common genetic variation underlying these cancers. The project will raise the profile of cancer research in Romania at the international level. In the long-term, the results will be useful for policy makers and may impact strategies to lessen the disease burden. the University of Medicine and Pharmacy Carol Davila will manage the project. The National Institute of Public Health will design the epidemiological study. deCODE will transfer knowledge about all stages of genetic analysis to the partners. Reykjavik University will participate with experts in bioinformatics focusing on the analyses of the large amount of data.
Summary of project results
In Romania, there is a lack of quantitative data associating the cancer risk with lifestyle factors and even less information regarding the genetic characteristics. The ROMCAN project performed an evaluation of genetic risk factors associated with four major cancer types and examined if there is any effect modification by ethnicity, focusing on the Roma group, and created a valuable resource for genetic epidemiology studies, starting with a database containing lifestyle-, demographic- and clinical data. The major outcome is the information gained on the population frequencies of common genetic variation and the identification of high-risk mutations in breast and colorectal cancer genes. All genetic data will be transferred to the Romanian partners who have through the course of the project developed the skills to analyze them. In the long-term, research on the genetic causes of cancer will be useful to lessen the burden of cancer. Given the ongoing concern that health research is not serving the interests of Roma ethnic as well as it should, an important focus was to search for epidemiological and genetic data aimed to assess the health risk experienced by this group. There are significant differences in lifestyle and self-perceived health status in the Roma. We also provided valuable information on the genetic makeup of familial colo-rectal cancers, breast cancers and we evaluated the admixture of the Roma group. The first results show that both Roma and Romanian individuals can be seen as an admixture of other major European populations and are genetically indistinguishable from one another. Further analysis of cancer predisposing genes in the Roma population is on-going. ROMCAN project expanded the collection of data and samples over a total of 6,000 participants (4,290 cases and 1,730 controls), including a nested sample set from individuals of Roma ethnicity. These samples were genotyped with a chip of high content creating a valuable resource for genetic research on cancer in Romania. Furthermore, ROMCAN started to unravel the diversity of high-penetrance mutations in breast cancer and colo-rectal cancer in the Romanian population. All these studies lead to a better understanding of genetic cancer susceptibility in Romania and took the first steps towards screening for high-risk families. ROMCAN have been of benefit to all partners on several levels and added value to the money already spent.
Summary of bilateral results
The partners had previously enjoyed a very successful collaboration in a research project funded by the EU (Promark). With ROMCAN, the Romanian scientists were able to start building the necessary infrastructures for transferring the genetic data and to start the analysis. deCODE funded a large part of the cost of genotyping and sequencing done in the project and had a major involvement in the processing of biological samples, genotyping and analysis of genetic data. deCODE is among the world leaders in human genetic research and their expertise and technical capabilities were instrumental to the work conducted. Reykjavik University had a major contribution in setting up the training program for the Romanian scientists. ROMCAN has thus had tremendous effect on the bilateral relations. The partners will look for new opportunities building on the previous successful projects conducted for the last 9 years. The People program of the EU Marie Curie will be explored. In particular, the PhD student involved in ROMCAN will apply for a Standard European Fellowship (EF-ST) with a proposal built on the results of ROMCAN with continued collaboration with the Icelandic partners.