研究领域

Medical Genetics

Inherited forms of cancer have been my main interest for around 20 years. The research I have been involved first focused on the identification of genes associated with with inherited forms of colorectal cancer and breast cancer. The research area proved to be extremely successful as it really set the scene for our current understanding of the genetic basis of malignancy. Since the identification of genetic susceptibilities my research interests have focused on better defining these inherited entities such that more appropriate intervention strategies can be developed. Initially, much emphasis was placed on recognising genotype/phenotype correlations with disease and as such the research I have undertaken has done much to define such relationships. More recently, the role of modifier genes in disease penetrance has been a major thematic area and data forthcoming from these studies indicates that there are additional disease susceptibilities that are important in assessing individual risk on a genetic background of high risk. This research is now beginning to be translated to the general population as it represents the first tentative move towards determining cancer risk in the general population. With increasing emphasis on disease prevention it is to be expected that this research will continue to flourish. My research career took off in Switzerland where I consolidated a centre dedicated to the study of inherited predispositions to cancer. During this period of my research career I was heavily involved in the identification of genetic predispositions to breast cancer and bowel cancer and through my activities supervised 4 PhD students who have since had excellent careers in medical research. The research that I am focused on is consistent with two of Australia's national priorities, healthy aging and a healthy start to life.

近期论文

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2016 Weickert CS, Fullerton JM, Hu S, Kyaw M, Schofield PR, Carr VJ, et al., 'SCHIZOPHRENIA AND COGNITIVE DYSFUNCTION ASSOCIATED WITH THE ESTROGEN RECEPTOR 1 GENOTYPE', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY, 50 77-77 (2016) 2016 Lener MR, Scott RJ, Kluzniak W, Baszuk P, Cybulski C, Wiechowska-Kozlowska A, et al., 'Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?', International Journal of Cancer, 139 601-606 (2016) [C1] 2016 Okbay A, Baselmans BM, De Neve JE, Turley P, Nivard MG, Fontana MA, et al., 'Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.', Nat Genet, 48 624-633 (2016) 2016 Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, et al., 'Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.', Nat Commun, 7 10023 (2016) 2016 Purrington KS, Visscher DW, Wang C, Yannoukakos D, Hamann U, Nevanlinna H, et al., 'Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes', Breast Cancer Research and Treatment, 157 117-131 (2016) [C1] 2016 Hungate EA, Vora SR, Gamazon ER, Moriyama T, Best T, Hulur I, et al., 'A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.', Nature communications, 7 10635 (2016) [C1] 2016 De Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, et al., 'A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration', Human Molecular Genetics, 25 358-370 (2016) [C1] 2016 Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, et al., 'Panel testing for familial breast cancer: Calibrating the tension between research and clinical care', Journal of Clinical Oncology, 34 1455-1459 (2016) 2016 Painter JN, Kaufmann S, O'Mara TA, Hillman KM, Sivakumaran H, Darabi H, et al., 'A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding', American Journal of Human Genetics, 98 1159-1169 (2016) 2016 Sjursen W, McPhillips M, Scott RJ, Talseth-Palmer BA, 'Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.', Molecular genetics & genomic medicine, 4 223-231 (2016) [C1] 2016 Cheng TH, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, et al., 'Five endometrial cancer risk loci identified through genome-wide association analysis.', Nat Genet, 48 667-674 (2016) 2016 Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, et al., 'Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer', Nature Communications, 7 (2016) [C1] 2016 Tan AG, Kifley A, Mitchell P, Rochtchina E, Flood VM, Cumming RG, et al., 'Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract.', JAMA Ophthalmol, (2016) 2016 McKenzie R, Scott RJ, Otton G, Scurry J, 'Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome', Pathology, 48 78-80 (2016) [C3] 2016 Talseth-Palmer BA, Bauer DC, Sjursen W, Evans TJ, McPhillips M, Proietto A, et al., 'Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.', Cancer Med, 5 929-941 (2016) 2016 Hess JL, Tylee DS, Barve R, de Jong S, Ophoff RA, Kumarasinghe N, et al., 'Transcriptome-wide mega-analyses reveal joint dysregulation of immunologic genes and transcription regulators in brain and blood in schizophrenia', Schizophrenia Research, (2016) 2016 Wong-Brown M, McPhillips M, Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Scott RJ, 'When is a mutation not a mutation: The case of the c.594-2A\C splice variant in a woman harbouring another BRCA1 mutation in trans', Hereditary Cancer in Clinical Practice, 14 (2016) 2016 Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, et al., 'No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.', J Med Genet, 53 298-309 (2016) 2016 Guo ST, Chi MN, Yang RH, Guo XY, Zan LK, Wang CY, et al., 'INPP4B is an oncogenic regulator in human colon cancer.', Oncogene, 35 3049-3061 (2016) 2016 Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, et al., 'CYP19A1 fine-mapping and Mendelian randomization: Estradiol is causal for endometrial cancer', Endocrine-Related Cancer, 23 77-91 (2016) [C1]