Genetic epidemiology

International collaborations

Epidemiology in the 1980s predated the Human Genome Project and was very focused on environmental exposures. Anticipating growth in genetic technology during the lifetime of the Melbourne Collaborative Cohort Study, we collected blood from all subjects as a resource to analyse DNA.

Similarly, in our case-control family studies, developed in collaboration with John Hopper, we sampled blood not only from probands (the primary people tested) but also from their relatives. This positioned us to be eligible for National Institutes of Health funding for population-based collaborative family studies. These studies are already delivering information that's important to cancer control in hereditary breast and colorectal cancer. For more information email cec@cancervic.org.au.

Current projects:


COGS (Collaborative Onological Gene-environment Study)

COGS is an initiative of three large international consortia to identify genetic associations and gene-environment interactions in relation to ovarian, breast, and prostate cancer risk. The three consortia are the Breast Cancer Association Consortium (BCAC), the Ovarian Cancer Association Consortium (OCAC) and the PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome (PRACTICAL). Other consortia contributing to the COGS initiative that is funded by a large grant from the European Union include the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the International BRCA1/2 Carrier Cohort Study (IBCCS) that aim to study genetic modifiers for BRCA1 and BRCA2.

BCAC (Breast Cancer Association Consortium)

The Melbourne Collaborative Cohort Study has contributed to BCAC information about women with a diagnosis of breast cancer and women with no history of breast cancer. This includes demographics, clinical data and key epidemiological risk factors, and genetic material. BCAC has developed guidelines for genotyping to ensure the quality of data between participating institutions.

Investigators: Douglas Easton*, Paul Pharoah, Australia - Graham Giles, John Hopper**, Laura Baglietto, Gianluca Severi, Melissa Southey** (*External Project Leader, **External Collaborators)

Objectives:

  • To combine breast cancer data from many studies.
  • To provide a reliable assessment of the risks associated with genes that may be related to the risk of breast cancer.

OCAC (Ovarian Cancer Association Consortium)

Investigators: Andy Berchuck, Paul Pharoah, Simon Gayther, Leigh Pearce, Ellen Goode, Joellen Schildkraut, Georgia Chenevix-Trench, Susan Ramus, Australia - Graham Giles, Laura Bablietto, Gianluca Severi, Melissa Southey** (*External Project Leader, **External Collaborators)

Objectives:

  • To combine ovarian cancer data from many studies.
  • To provide a reliable assessment of the risks associated with these genes that may be related to the risk of ovarian cancer.

PRACTICAL (PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome)

Investigators: Ros Eeles*, Zsofia Kote-Jarai, Douglas Easton, Australia - Graham Giles, John Hopper**, Dallas English**, Gianluca Severi, Melissa Southey** (*External Project Leader, **External Collaborators)

Objectives:

  • To combine prostate cancer data from many studies.
  • To provide a reliable assessment of the risks associated with these genes that may be related to the risk of prostate cancer.

Pooling Project (The Pooling Project of Prospective Studies of Diet and Cancer)

The Pooling Project is an international consortium of at least 28 cohort studies with the goal of analysing diet and cancer associations using standardised criteria across studies.

The Melbourne Collaborative Cohort Study is involved because it has used a comprehensive dietary assessment method to measure usual diet.

Investigators: Stephaine Smith-Warner*, Australia - Graham Giles, John Hopper**, Dallas English** (*External Project Leader, **External Collaborators)

Objectives:

  • To evaluate whether diet and cancer associations are consistent across cohort studies comprised of different populations with different dietary habits.
  • For each association, we generate summary estimates, which have greater precision than any of the individual studies due to the larger sample sizes.
  • To examine whether associations differ for specific population subgroups (ex: between men and women; among never, past and current smokers; between lean and overweight individuals) or for different histologic types or subsites of specific cancers.

National Cancer Institute (NCI) Cohort Consortium

The Cohort Consortium is a partnership formed by the National Cancer Institute (NCI) to address the need for large-scale collaborations to pool the large quantity of data and biospecimens necessary to conduct a wide range of cancer studies. The Consortium, through its collaborative network of investigators, provides a coordinated, interdisciplinary approach to tackling important scientific questions, economies of scale, and opportunities to quicken the pace of research.

Some of the projects that we contributed Melbourne Collaborative Cohort Study data to are:

Investigators: James Cerhan, William J. Blot, Julie Buring, Robert Hoover, Elio Riboli, Deborah Winn, Anne Zeleniuch-Jacquotte (Interantional Leadership Group), Australia - Graham Giles, Laura Bablietto, John Hopper**, Dallas English**, Melissa Southey** (**External Collaborators)

Objectives:

  • Foster communication among investigators leading cohort studies of cancer;
  • Promote collaborative research projects for topics not easily addressed in a single study; and
  • Identify common challenges in cohort research and search for solutions.

Oxford Pooling Project

Investigator(s): Tim Key*, Australia - Graham Giles, Laura Bablietto, John Hopper**, Dallas English**, Melissa Southey** (*External Project Leader, **External Collaborators)

Objective(s):

For the pooled analysis of prospective studies of endogenous sex hormones and breast cancer risk:

  • To obtain more precise estimates of relativerisks than can be obtained from single studies.
  • To look at the relationship of time between blood collection and diagnosis with the risks associated with hormones.
  • To try and identify which hormone is mostclosely associated with risk.
  • To investigate whether the association between endogenous hormone concentrations and breast cancer risk varies according to the history of use of exogenous sex hormones.
  • To investigate whether the association of body mass index with breast cancer risk can be explained by its association with sex hormones.

For the pooled analysis of prospective studies of endogenous sex hormones, IGFs and prostate cancer risk:

  • To use uniform methods to provide more precise estimates for each hormone individually.
  • To investigate the relationship between blood collection time and diagnosis with risk.
  • To identify which hormone is most closely associated with risk by allowing hormone risk to be mutually adjusted.
  • To examine the relationship between subject characteristics and hormone concentration in a cross-sectional manner.
  • To examine the relative risks in each subgroup by stag and grade of the cancer and other factors, as appropriate.

Breast CFR (Collaborative Family Register)

Investigators: Australia - John Hopper**, Graham Giles, Melissa Southey*, Margaret McCredie*, plus 5 overseas centres (*External collaborators **Project Leader)

Objectives:

  • To conduct a large case-control-family study of breast cancer.
  • To recruit and obtain DNA samples from families (first degree relatives and aunts) of a population based sample of probands identified from population cancer registries and from age-matched controls.

Colon CFR (Collaborative Family Register)

Investigators: Australia - John Hopper**, Jeremy Jass**, Graham Giles, Melissa Southey*, Mark Jenkins*, plus 5 overseas centres (*External collaborators **Project Co Leaders) 

Objectives: 
  • To conduct a large case-control-family study of colorectal cancer.
  • To recruit and obtain DNA samples from families (first degree relatives, uncles and aunts) of a population based sample of probands identified from population cancer registries and from age-matched controls.

Australian melanoma family study

Investigators: Australia - Graham Mann**, John Hopper*, Graham Giles, Rick Kefford*, Bruce Armstrong*, Joanne Aitken*, plus overseas centres (*External collaborators **Project Leader).

Objectives:

  • To conduct a large case-control-family study of melanoma.
  • To recruit and obtain DNA samples from families (first-degree relatives, uncles and aunts) of a population based sample of probands identified from population cancer registries and from age-matched controls.

KConFab

Investigators: Graham Giles, Helen Farrugia, Georgia Chenevix-Trench* et al (* External Project Leader)
Objectives: To develop an efficient system to collect, check and access the data obtained from eligible families recruited by family cancer clinics in Australia.

ACTANE (Anglo-Canadian-Texan-Norwegian-EU) consortium

Investigators: Australia - Graham Giles, John Hopper*, Dallas English, Gianluca Severi, Melissa Southey*. UK - Ros Eeles** Doug Easton (* External collaborators **Project Leader)

Objectives: To recruit and obtain DNA samples from multiple case prostate cancer families that are eligible for genetic linkage analysis to assist the search for susceptibility genes by contributing them to an international consortium.

IARC Prostate Cancer Genetics Discovery Project

Investigators: Graham Giles, John Hopper*, Dallas English, Gianluca Severi, Melissa Southey*. USA: Sean Tavtigian** (*External collaborators **Consortium Leader)

Objectives:

  • To search for prostate cancer susceptibility genes in subjects most likely to be carrying significant variants by analysing DNA from men diagnosed with prostate cancer at an early age and who have a family history of prostate cancer.
  • To choose candidate genes for sequencing.

ICPCG (International Consortium for Prostate Cancer Genetics)

Investigators: Graham Giles, John Hopper*, Dallas English, Gianluca Severi, Melissa Southey*. USA: Bill Isaacs** (* External collaborators **Consortium Leader)

Objectives: To recruit and obtain DNA samples from multiple case prostate cancer families that are eligible for genetic linkage analysis to assist the search for susceptibility genes by contributing them to an international consortium.

Updated: 09 Dec, 2014