The International Consortium for the Investigation of Renal Malignancies (I-ConFIRM)
I-ConFIRM (The International Consortium for the Investigation of Renal Malignancies) was formed in 2013 to promote international, multidisciplinary collaborations to advance our understanding of the etiology and outcomes of kidney cancer. The Consortium is comprised of international investigators and clinicians who have ongoing or completed studies relating to kidney cancer. In its initial phase, the Consortium will undertake research projects that pool existing data across studies as well as developing other collaborative research projects. The Consortium will focus on research questions that can only be addressed by pooling data and/or samples from different studies as well as provide resources to robustly test promising hypotheses generated by individual research groups. The aim is to create resources and opportunities for grant applications that would not be possible for the individual research groups and enable the expansion of existing studies to increase our knowledge of kidney cancer and create opportunities for prevention, early detection, and more effective treatment.
The Consortium is overseen by a Steering Committee coordinated by Dr. Gianluca Severi (Human Genetics Foundation, Italy) and Dr. Fiona Bruinsma and Ms Jennifer Walsh (Cancer Council Victoria, Australia) with members from the U.S., Asia, Australia, and Europe. The I-ConFIRM Consortium operates through the following working groups:
- Genetic susceptibility
- Molecular epidemiology
- Tumour characterization and prognostic factors
The Consortium will focus its activity around the study of genetic and molecular markers of risk and prognosis. Current activities of the Consortium aim to:
- Characterize known susceptibility genes for kidney cancer such as those identified in the Von-Hippel Lindau syndrome (VHL gene), Birt-Hogg-Dubé syndrome (FLCN gene) and hereditary leiomyomatosis and renal cell cancer (HLRCC) (FH gene) in pooled analyses of published and unpublished families.
- Obtain accurate estimates of associations between lifestyle and constitutional factors and risk of kidney cancer through pooled analyses of large prospective studies.
Other objectives the Consortium aims to achieve with future activities include the following:
- To estimate the proportion of kidney cancers explained by the known genetic factors using samples from large-scale population-based studies and taking advantage of current sequencing technologies – i.e. targeted sequencing using massively parallel sequencing;
- To identify modifiers of risk for carriers of mutations in high-risk genes such as VHL, FH, FLCN;
- To use both population-based and family studies to identify the causal variants responsible for the genome-wide association study (GWAS) signals; and
- To use multiple-case families and methods such as whole exome sequencing to identify new kidney cancer genes.
I-ConFIRM is an open Consortium comprised of a team of epidemiologists, clinical geneticists, urologists and oncologists from Australia, North America, the United Kingdom, France, the Netherlands, and Singapore. Anyone who is interested in helping to contribute to the fight against kidney cancer can join. View membership request form.
- Gianluca Severi, Ph.D.
- Eamonn Maher, B.Sc. M.D., F.R.C.P., F.Med.Sci.
- Loren Lipworth, Sc.D.
- Fiona Bruinsma, Dr.P.H.
- Ingrid Winship, M.B.Ch.B., M.D., F.R.A.C.P., F.A.C.D., F.A.I.C.D.