Genetic Cancer Risk Group


We are interested in the heritable aspects of cancer with a focus on two cohort populations - the International Sarcoma Kindred Study (ISKS) and the Genetic Cancer Risk in the Young (RisC) Study. In addition, individuals are increasingly being identified by genotype (often in the absence of a family history) as having an elevated cancer risk. Our research includes the Surveillance in Multi-Organ Cancer prone syndromes (SMOC+) study that screens genotypically identified individuals regularly and follows up outcomes longitudinally.  

We aim to understand further the genetic contribution to cancer risk and the implications of genotype identified risk.  This will potentially more fully inform clinical surveillance strategies, treatment regimes, reproductive and lifestyle decisions and potentially improve outcomes for families affected by cancer.

Selected Publications

Ballinger ML, Best A, Mai PL et al, Baseline Surveillance in Li Fraumeni Syndrome using whole body magnetic resonance imaging: A Meta analysis, JAMA Oncol. 2017, 3(12):  1634-39

Ballinger ML, Ferris NJ, Moodie K et al, Surveillance in germline TP53 mutation carriers utilizing whole body magnetic resonance imaging, JAMA Oncol. 2017, 3(12):1735-36  

Leroy B, Ballinger ML, Braithwaite A et at, Recommended guidelines for validation, quality control and reporting TP53 variants in clinical practice, Cancer Research 2017 Mar 15; 77(6):1250-1260

McBride KA, Ballinger ML, PhD; Schlub TE, PhD et al, Psychosocial morbidity in TP53 mutation carriers - is whole-body cancer screening beneficial? Familial Cancer 2017 Jan 25. doi:10.1007/s 10689-016-9964-7

Willis AM, Smith SK, Meiser B, Ballinger ML et al, Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review. Clinical Genetics 2016 2016 Sep 19. doi: 10.1111/cge.12868. [Epub ahead of print]

Ballinger ML, Thomas DM, Sarcoma and germ-line DICER1 mutations - Authors reply. Lancet Oncology 2016 Nov;17(11):e471. doi: 10:1016/S1470-2045(16)30527-7.

Ballinger ML, Goode D, Ray-Coquard I et al, Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Lancet Oncology 2016; Sep;17(9):1261-71. doi: 10.1016/S1470-2045(16)30147-4. Epub 2016 Aug 4.

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, Diagnosis and management of hereditary sarcoma. In: Rare Hereditary Cancers Diagnosis and Management. Eds Chris Jacobs and Gabriella Pichert. Recent Results in Cancer Research Series Editors: PM Schlag HJ Senn Springer 2016; 205: 169-89.

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

More Garvan Publications

Staff in the Group

Claire Barker

Research Coordinator

Ellie Carpenter

Senior Research Coordinator

Eliza Courtney

Visiting Scientist

Dr John Grady

Senior Software Engineer

Jenny Gu

Senior Research Coordinator - Lifehouse and Garvan

Sarah Lynch

Research Coordinator

Laura Manuel

Research Coordinator

Sonia Mathews

Research Coordinator

Matthew Merriman

Research Coordinator

Amelia Mifsud

Senior Research Support Coordinator

Dr Christine Napier

National Coordinator Clinical Follow-up

Nathan Salgo

Research Coordinator

Dr Kelly Walwyn

Project Officer

Lynda Whiting

Executive Assistant

Anthony Xu

Bioinformatics Research Assistant

Zasiah Zia

Research Coordinator