Select Publications
Journal articles
2020, 'Genotype and phenotype correlation of common cancer predisposition syndromes in sarcoma cases.', Journal of Clinical Oncology, 38, pp. 1524 - 1524, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1524
,2020, 'Return of results after somatic tumor mutation profiling in advanced cancer: Psychological impacts.', Journal of Clinical Oncology, 38, pp. 1541 - 1541, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1541
,2020, 'Assessment of the Value of Tumor Variation Profiling Perceived by Patients with Cancer', JAMA Network Open, 3, pp. e204721, http://dx.doi.org/10.1001/jamanetworkopen.2020.4721
,2020, 'Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients with Osteosarcoma', JAMA Oncology, 6, pp. 724 - 734, http://dx.doi.org/10.1001/jamaoncol.2020.0197
,2020, 'Who should access germline genome sequencing? A mixed methods study of patient views', Clinical Genetics, 97, pp. 329 - 337, http://dx.doi.org/10.1111/cge.13664
,2020, 'Penetrance of different cancer types in families with Li-Fraumeni syndrome: A validation study using multicenter cohorts', Cancer Research, 80, pp. 354 - 360, http://dx.doi.org/10.1158/0008-5472.CAN-19-0728
,2020, 'Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology', , http://dx.doi.org/10.1101/2020.12.18.20248521
,2020, 'Heritable cancer risk in the genomic era', Pathology, 52, pp. S28 - S29, http://dx.doi.org/10.1016/j.pathol.2020.01.118
,2019, 'Diagnosis of fusion genes using targeted RNA sequencing', Nature Communications, 10, pp. 1388, http://dx.doi.org/10.1038/s41467-019-09374-9
,2019, 'Patient perspectives on molecular tumor profiling: "why wouldn't you?"', BMC Cancer, 19, pp. 753, http://dx.doi.org/10.1186/s12885-019-5920-x
,2019, 'A quantitative model to predict pathogenicity of missense variants in the TP53 gene', Human Mutation, 40, pp. 788 - 800, http://dx.doi.org/10.1002/humu.23739
,2019, 'Author Correction: Therapeutic implications of germline genetic findings in cancer (Nature Reviews Clinical Oncology, (2019), 16, 6, (386-396), 10.1038/s41571-019-0179-3)', Nature Reviews Clinical Oncology, 16, pp. 397, http://dx.doi.org/10.1038/s41571-019-0212-6
,2019, 'Therapeutic implications of germline genetic findings in cancer', Nature Reviews Clinical Oncology, 16, pp. 386 - 396, http://dx.doi.org/10.1038/s41571-019-0179-3
,2019, 'Medical oncologists’ experience with returning molecular tumor profiling to patients.', Journal of Clinical Oncology, 37, pp. 10521 - 10521, http://dx.doi.org/10.1200/jco.2019.37.15_suppl.10521
,2019, 'Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts', BMC Medical Genetics, 20, http://dx.doi.org/10.1186/s12881-019-0808-9
,2018, 'Cancer Molecular Screening and Therapeutics (MoST): A framework for multiple, parallel signal-seeking studies of targeted therapies for rare and neglected cancers', Medical Journal of Australia, 209, pp. 354.e1 - 354.e6, http://dx.doi.org/10.5694/MJA18.00227
,2018, 'Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk', Journal of Genetic Counseling, 27, pp. 1055 - 1066, http://dx.doi.org/10.1007/s10897-018-0223-y
,2018, 'The PiGeOn project: Protocol of a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer', BMC Cancer, 18, pp. 389, http://dx.doi.org/10.1186/s12885-018-4366-x
,2018, 'Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients', International Journal of Cancer, 142, pp. 1594 - 1601, http://dx.doi.org/10.1002/ijc.31195
,2018, 'A comparison of Australian and French families affected by sarcoma: Perceptions of genetics and incidental findings', Personalized Medicine, 15, pp. 13 - 24, http://dx.doi.org/10.2217/pme-2017-0035
,2017, 'Baseline surveillance in li-fraumeni syndrome using whole-body magnetic resonance imaging ameta-analysis', JAMA Oncology, 3, pp. 1634 - 1639, http://dx.doi.org/10.1001/jamaoncol.2017.1968
,2017, 'Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging', JAMA oncology, 3, pp. 1735 - 1736, http://dx.doi.org/10.1001/jamaoncol.2017.1355
,2017, 'Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review', Clinical Genetics, 92, pp. 121 - 133, http://dx.doi.org/10.1111/cge.12868
,2017, 'Abstract 4871: Whole-exome sequencing identifies a high frequency of germline deleterious variants in cancer predisposition genes in individuals with osteosarcoma', Cancer Research, 77, pp. 4871 - 4871, http://dx.doi.org/10.1158/1538-7445.am2017-4871
,2017, 'Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?', Familial Cancer, 16, pp. 423 - 432, http://dx.doi.org/10.1007/s10689-016-9964-7
,2017, 'Estimating TP53 mutation carrier probability in families with li-fraumeni syndrome using LFSPRO', Cancer Epidemiology Biomarkers and Prevention, 26, pp. 837 - 844, http://dx.doi.org/10.1158/1055-9965.EPI-16-0695
,2017, 'Recommended guidelines for validation, quality control, and reporting of TP53 variants in clinical practice', Cancer Research, 77, pp. 1250 - 1260, http://dx.doi.org/10.1158/0008-5472.CAN-16-2179
,2016, 'Sarcoma and germ-line DICER1 mutations – Authors’ reply', The Lancet Oncology, 17, pp. e471, http://dx.doi.org/10.1016/S1470-2045(16)30527-7
,2016, 'Monogenic and polygenic determinants of sarcoma risk: an international genetic study', The Lancet Oncology, 17, pp. 1261 - 1271, http://dx.doi.org/10.1016/S1470-2045(16)30147-4
,2016, 'Diagnosis and management of hereditary sarcoma', Recent Results in Cancer Research, 205, pp. 169 - 189, http://dx.doi.org/10.1007/978-3-319-29998-3_10
,2016, 'Timing and context: important considerations in the return of genetic results to research participants', Journal of Community Genetics, 7, pp. 11 - 20, http://dx.doi.org/10.1007/s12687-015-0231-7
,2016, 'International survey of awareness of genetic risk in the clinical sarcoma community', Asia Pac J Clin Oncol, 12, pp. 133 - 142, http://dx.doi.org/10.1111/ajco.12457
,2015, 'A genome-wide scan identifies variants in NFIB associated with metastasis in patients with osteosarcoma', Cancer Discovery, 5, pp. 920 - 931, http://dx.doi.org/10.1158/2159-8290.CD-15-0125
,2015, 'Surveillance recommendations for patients with germline TP53 mutations', Current Opinion in Oncology, 27, pp. 332 - 337, http://dx.doi.org/10.1097/CCO.0000000000000200
,2015, 'Clinical implications of genomics for cancer risk genetics', The Lancet Oncology, 16, pp. e303 - e308, http://dx.doi.org/10.1016/S1470-2045(15)70026-4
,2015, 'Etiologic, environmental and inherited risk factors in sarcomas', Journal of Surgical Oncology, 111, pp. 490 - 495, http://dx.doi.org/10.1002/jso.23809
,2014, 'Li-Fraumeni syndrome: Cancer risk assessment and clinical management', Nature Reviews Clinical Oncology, 11, pp. 260 - 271, http://dx.doi.org/10.1038/nrclinonc.2014.41
,2013, 'High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort', PLoS ONE, 8, http://dx.doi.org/10.1371/journal.pone.0069026
,2013, 'Suramin inhibits PDGF-stimulated receptor phosphorylation, proteoglycan synthesis and glycosaminoglycan hyperelongation in human vascular smooth muscle cells', Journal of Pharmacy and Pharmacology, 65, pp. 1055 - 1063, http://dx.doi.org/10.1111/jphp.12064
,2013, 'Smad2-dependent glycosaminoglycan elongation in aortic valve interstitial cells enhances binding of LDL to proteoglycans', Cardiovascular Pathology, 22, pp. 146 - 155, http://dx.doi.org/10.1016/j.carpath.2012.07.002
,2013, 'The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research', Clinical Sarcoma Research, 3, pp. 11 - 11, http://dx.doi.org/10.1186/2045-3329-3-11
,2012, 'An increased incidence of Hodgkin's lymphoma in patients with adult-onset sarcoma', CLINICAL SARCOMA RESEARCH, 2, http://dx.doi.org/10.1186/2045-3329-2-1
,2012, 'Genistein inhibits PDGF-stimulated proteoglycan synthesis in vascular smooth muscle without blocking PDGFâ receptor phosphorylation', Archives of Biochemistry and Biophysics, 525, pp. 25 - 31, http://dx.doi.org/10.1016/j.abb.2012.05.025
,2012, 'Inherited and de novo germline TP53 mutations in adult-onset sarcoma', Hereditary cancer in clinical practice, 10, pp. A3 - A3, http://dx.doi.org/10.1186/1897-4287-10-s2-a3
,2012, 'Inherited and de novo germline TP53 mutations in adult-onset sarcoma', Hereditary cancer in clinical practice, 10, pp. A26 - A26, http://dx.doi.org/10.1186/1897-4287-10-s2-a26
,2012, 'Pathogenic germline TP53 mutations in adult sarcoma patients; implications for treatment and screening – description of an upcoming project', Hereditary cancer in clinical practice, 10, pp. A61 - A61, http://dx.doi.org/10.1186/1897-4287-10-s2-a61
,2010, 'Thrombin stimulation of proteoglycan synthesis in vascular smooth muscle is mediated by protease-activated receptor-1 transactivation of the transforming growth factor βtype I receptor', Journal of Biological Chemistry, 285, pp. 26798 - 26805, http://dx.doi.org/10.1074/jbc.M109.092767
,2010, 'Imatinib inhibits vascular smooth muscle proteoglycan synthesis and reduces LDL binding in vitro and aortic lipid deposition in vivo', Journal of Cellular and Molecular Medicine, 14, pp. 1408 - 1418, http://dx.doi.org/10.1111/j.1582-4934.2009.00902.x
,2010, 'TGF-β stimulates biglycan synthesis via p38 and ERK phosphorylation of the linker region of Smad2', Cellular and Molecular Life Sciences, 67, pp. 2077 - 2090, http://dx.doi.org/10.1007/s00018-010-0315-9
,2010, 'Platelet-derived growth factor differentially regulates the expression and post-translational modification of versican by arterial smooth muscle cells through distinct protein kinase C and extracellular signal-regulated kinase pathways', Journal of Biological Chemistry, 285, pp. 6987 - 6995, http://dx.doi.org/10.1074/jbc.M109.088674
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