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Identification of genetic variation predisposing to ovarian cancer

  • Full or part time
  • Application Deadline
    Applications accepted all year round
  • Competition Funded PhD Project (Students Worldwide)
    Competition Funded PhD Project (Students Worldwide)

Project Description

Ovarian cancer (OC) has a strong heritable component but BRCA1 or BRCA2 mutations account for only ~40% of the heritable fraction. We hypothesize that analogous to our findings in breast cancer families, much of the ‘missing’ heritability of OC is explained by mutations in many moderate or high penetrance genes, but that any one gene defect is present in only a few families. Given the likely heterogeneity for non-BRCA1/2 OC families, family-based whole exome sequencing (WES) will be a powerful means of identifying new predisposition genes.
Following familial WES analysis, candidate genes will be screened in 1000 additional familial ovarian cancer index cases and matching controls. Genes will also be investigated by segregation analysis in positive families and LOH analysis in tumour DNA. In addition to discovery of new genes by WES, all cases and family members will be genotyped for all highly validated low penetrance SNPs to calculate a polygenic risk score that will determine if co-inheritance of low penetrance risk alleles may explain some familial OC aggregation.

The major focus of the Campbell Laboratory is the identification of genes involved in the predisposition, initiation and progression of breast and ovarian cancer.

Key research studies include:
1) Identifying genes involved in breast, ovarian and colorectal cancer predisposition through next generation sequencing.
2) Conducting genome-wide copy number analysis of breast ductal carcinoma in situ and atypical ductal hyperplasia to identify markers of disease progression.
3) Conducting next generation sequencing and functional screens to identify driver genes of ovarian tumourigenesis.
4) Integrating genomic analyses to identify genes involved in breast and ovarian carcinogenesis.
5) Understanding interval breast cancer biology and mammographic density through LifePool.


Peter MacCallum Cancer Centre, Melbourne Australia
Peter MacCallum Cancer Centre is Australia’s only public hospital solely dedicated to cancer, and home to the largest cancer research group in Australia. Cancer is a complex set of diseases, and modern cancer research institutes such as Peter Mac conduct research covering a diversity of topics that range from laboratory-based studies into the fundamental mechanisms of cell growth, translational studies that seek more accurate cancer diagnosis, clinical trials with novel treatments, and research aimed to improve supportive care.
All students engaged in postgraduate studies at Peter Mac are enrolled in the Comprehensive Cancer PhD (CCPhD) program, regardless of which university they are enrolled through. The program is managed by the Sir Peter MacCallum Department of Oncology (The University of Melbourne), based at Peter Mac.

Tapping into the depth and breadth of knowledge and experience offered by the ten partners of the Victorian Comprehensive Cancer Centre (VCCC) alliance, the University of Melbourne’s Comprehensive Cancer PhD Program provides a unique opportunity for multidisciplinary cancer-related PhD candidates to experience clinical and research activities across the alliance.

The Comprehensive Cancer PhD program builds on established conventional training for cancer research students providing a coordinated program of skills, research and career training in addition to usual PhD activities. The program is designed to complement existing PhD activities and provides opportunities to develop professional skills that will help candidates to fulfil their career ambitions.

Funding Notes

All PhD students at Peter Mac must have a scholarship from The University of Melbourne or through another government, trust or philanthropic organisation. Before applying for a scholarship, you must have agreed on a project with an institute supervisor.

For further information about the university application process, see:
View Website

For further information regarding scholarships (both local and international), see:
View Website
Closing dates for applications for scholarships to commence in 2017: Round 1 -31 October 2016; Round 2 - 18 Dec 2016.

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