Postdoc Recipient: Dr Philip Harraka, Precision Medicine, Department of Medicine, Monash University
Supervisors: Professor Melissa Southey, A/Professor Shuai Li.
Funding: $40,000 in GERA’s Postdoc Fellowships Round 2 (2026)
About the project: Using multiple-case breast cancer families from the Australian Breast Cancer Family Registry (ABCFR), this project aims to identify the recessively inherited genomic risk factors that contribute to unexplained familial breast cancer susceptibility. Segregation analyses of more than 17,000 breast cancer families suggest that a substantial proportion of residual familial aggregation is best explained by recessive inheritance, yet the specific variants responsible have not been characterised.
The project will prioritise families with strong evidence for recessive risk and perform long-read whole-genome sequencing on key affected relatives. By integrating haplotype analysis, identity-by-descent mapping and rare variant filtering, the study will search for biallelic variants in regions shared by affected sisters, focusing on rare, protein-truncating and pathogenic missense variants. Promising candidates will be investigated in additional resources and assessed for functional relevance before being introduced into segregation analyses to quantify how much residual familial risk they explain.
Inherited breast cancer risk is currently only partly understood, leaving many families without an evidence-based explanation for their disease. Identifying new recessive susceptibility genes would improve risk prediction, expand clinical testing panels and refine population screening strategies, enabling more women to be informed of their inherited risk early enough to benefit from tailored prevention and surveillance. This project therefore addresses a critical gap in breast cancer genomics and has the potential to deliver long-term benefits for clinical genetics, precision prevention and public health.
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