Dr Mandy Ballinger

Group Leader - Genetic Cancer Risk

Mandy’s research is focused on genetic cancer risk.  Key to this is the International Sarcoma Kindred Study (ISKS) which was formed to investigate the familial aspects of sarcoma.  Since it’s inception in 2008, Mandy has overseen recruitment of more than 1,700 families across 7 countries (Australia, France, India, Korea, New Zealand, USA, UK).

The high frequency of germline TP53 mutations detected in the ISKS prompted development of the Surveillance Study in Multi-Organ Cancer prone syndromes (SMOC+) which has recently been extended to include all those identified as being at cancer risk by genotype.  Mandy also co-ordinates the Genetic Cancer Risk in the Young (Cancer Risk) Study investigating the heritable burden of cancer in a young population suggestive of a genetic etiology. 

Mandy is involved with several research projects utilising the ISKS, Cancer Risk and SMOC+ resources.  She is a member of the World Sarcoma Network, the Li Fraumeni Exploration (LiFE) consortium and the eviQ Cancer Genetics Reference Committee.  Mandy has created powerful tools in these cohorts for both discovery and translation, and has well developed skills in clinical genetics, cohort research, and clinical interventions.  

Mandy’s goal is to utilise these cohorts to define the extent of heritable risk in sarcoma and other cancers, and to turn the cohorts into vehicles for intervention to change practice and improve outcomes for families.

Research Interests

Genetic cancer risk
Hereditary cancer
Li Fraumeni syndrome
Cancer surveillance
Disclosure of clinically significant research findings


Current - Master of Genetic Counselling, University of Sydney, Sydney - Australia
2006 - PhD, Monash University, Melbourne, Australia
2002 - BSc First Class Honours (Major: Biochemistry), Monash University, Melbourne - Australia
2001 – BAppSc (Applied Biology), Monash University, Melbourne - Australia

Selected Publications

Thomas DM, Ballinger ML. Diagnosis and Management of Hereditary Sarcoma. Recent Results Cancer Res. 2016;205:169-89.

Thomas DM, James PA, Ballinger ML. Clinical implications of genomics for cancer risk genetics. Lancet Oncol. 2015 Jun;16(6):e303-8.

Ballinger ML, Mitchell G & Thomas DM, Surveillance recommendations for patients with germline TP53 mutations, Current Opinion in Oncology 2015; 27(4): 332-337

Thomas DM and Ballinger ML, Advances in genetic testing for hereditary sarcoma. In: Diagnosis and management of hereditary cancer. Eds Chris Jacobs and Gabriella Pichert. Springer 2015 (in press)

Thomas DM & Ballinger ML, Etiologic, environmental and inherited risk factors in sarcomas, Journal of Surgical Oncology 2015; 111: 490-495

Thomas DM, James PA, Ballinger ML, Clinical implications of genomics for cancer risk genetics, Lancet Oncology 2015; 16:e3030-8

McBride KM, Schlub TE, Ballinger ML, Thomas DM, Tattersall MHN, An international survey of awareness of genetic risk in the clinical sarcoma community, 2015 (accepted Asia Pacific Journal of Clincal Oncology)

Mirabello L, Koster R, Moriarty BS et al, A genome-wide scan identifies variants in NFIB associated with metastasis in patients with osteosarcoma, Cancer Discovery 2015; 5(9): 920-31

McBride KA, Hallowell N, Tattersall MHN, Kirk J, Ballinger ML, Thomas DM et al, Timing and Context: important considerations in the return of genetic results to research participants, Journal of Community Genetics 2015; DOI 10.1007/s12687-015-0231-7

K McBride, ML Ballinger, E Killick, J Kirk, MHN Tattersall, RA Eeles , DM Thomas* & GM Mitchell* (*equal last author), Germline TP53 mutations and Li-Fraumeni Syndrome: an evidence-based approach to cancer risks and clinical management, Nature Reviews Clinical Oncology 2014; 11: 260-271

Mitchell G*, Ballinger ML*, Wong S, et al.  High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. PLoS one 2013; 8 (7): e69026. *equal first author

Young M-A, Herlihy A, Mitchell G, Thomas DM, Ballinger ML, Tucker K, Lewis CR, Neuhaus S, International Sarcoma Kindred Study and Halliday J.  The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research.  Clinical Sarcoma Research 2013; 3:11

Downing ME, Dite GS, Ballinger ML, et al. An increased incidence of Hodgkin's lymphoma in patients with adult-onset sarcoma. Clinical Sarcoma Research 2012;2:1

Thomas DM and Ballinger ML, Environmental and genetic risk factors in sarcomas. In: Sarcomas. Eds: Pollock, Baker, O'Sullivan, Randall. PMPH-USA. (P_11099476)

Ballinger ML, Osman N, Hashimura K, et al. Imatinib inhibits vascular smooth muscle proteoglycan synthesis and reduces LDL binding in vitro and aortic lipid deposition in vivo. J Cell Mol Med 2010;14(6B):1408-18

Ballinger ML, Ivey ME, Osman N, et al. Endothelin-1 activates ETA receptors on human vascular smooth muscle cells to yield proteoglycans with increased binding to LDL. Atherosclerosis 2009;205(2):451-7

Ballinger ML, Osman N, Wilks AF, et al. Pyrido-pyrimidine derivative CYC10424 inhibits glycosaminoglycan changes on vascular smooth muscle-derived proteoglycans and reduces lipoprotein binding. J Cardiovasc Pharmacol 2008;52(5):403-12

Dr Mandy Ballinger