CANCERGENE

Identification and functional characterization of genetic cancer risk variants

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 Obiettivo del progetto (Objective)

'This Industry-Academia Partnership and Pathways (IAPP) joins three groups which have hitherto focused on different aspects of cancer genetics. deCODE genetics (deCODE) has recently identified several genetic risk variants that are associated with increased risk of cancer, including two distinct genetic prostate cancer risk variants on chromosome 8q24. The University of Torino (UNITO) group has identified a number of germline SNPs in signal transduction genes that are frequently mutated in tumors and the group has developed an innovative technology for knock-in of genetic variants in order to reconstruct genetic events in tumor progression. The Karolinska Institute (OP-KI) group has developed sophisticated tools for cytogenetic studies on tumors. The major objective of this proposal is to perform functional and cytogenetic analysis on several of the cancer risk variants identified by deCODE and UNITO. The major objectives of this proposal are 1) to discover and validate low-medium frequency polymorphisms that predispose to cancer, 2) to functionally validate the newly identified variants in human cells, 3) to identify biological properties associated with the prostate cancer risk alleles located at 8q24. Collaboration between deCODE, UNITO and OP-KI benefits all three partners since the capacities and technical skills are largely complementary. The collaboration is foreseen as an ongoing partnership aimed at elucidating the biological properties of genetic variants conferring risk of cancer.'

Introduzione (Teaser)

Pinpointing key cancer genes can help diagnose and prevent the disease, as well as develop novel testing methods and treatments.

Descrizione progetto (Article)

Cancer has stumped researchers in recent decades to the extent where many laboratories around the world are trying hard to find the root causes of this troubling disease and develop new treatments.

In this vein, the EU launched a project called 'Identification and functional characterisation of genetic cancer risk variants' (CancerGene) which focuses on different aspect of cancer genetics. The project aims to discover more factors that predispose people to cancer, validate these results in human cells and identify certain biological properties associated with prostate cancer among others.

Much of the testing was based on genome-wide association studies (GWAS) to identify common genetic factors that influence the onset of cancer.

The project brings together various key players such as the Karolinska Institute in Sweden, Torino University in Italy and contractors Islensk Erfdagreining EHF of Iceland.

The academic institutions are currently testing people for several genetic variants associated with cancer to try to pinpoint the causative variations of common cancer types. These include colon cancer, lung cancer and prostate cancer.

Patent applications for five cancer-risk variants have so far been filed. Four variants linked to prostate cancer and one variant linked to urinary bladder cancer have also been identified in the course of the project so far. As more of these variants emerge, early testing will uncover more and more people who are at risk or in early stages of developing cancer. This will mean improved treatment and higher rates of success.

Another major goal of CancerGene is to identify new cancer risk variants to produce additional tests and increase the usability of existing tests. The project is expected to increase our knowledge about the biological pathways that play a role in cancer initiation and progression. This knowledge will no doubt ultimately help investigators develop more effective prevention and treatment strategies in this field.