Our medical, nursing and allied health clinicians are increasingly involved in research to improve the care of our patients. This is reflected in the breadth of our research publications.
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy
Catchpool, M; Ramchand, J; Martyn, M; Hare, DL; James, PA; Trainer, AH; Knight, J; Goranitis, I
(2019), Genet. Med., 2815-2822
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility
Rowley, SM; Mascarenhas, L; Devereux, L; Li, N; Amarasinghe, KC; Zethoven, M; Lee, JEA; Lewis, A; Morgan, JA; Limb, S; Young, MA; James, PA; Trainer, AH; Campbell, IG
(2019), Genet. Med., 913-922
A Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre
Petelin, L; Hossack, L; Mitchell, G; Liew, D; Trainer, AH; James, PA
(2019), Value Health, 854-862
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Page, EC; Bancroft, EK; Brook, MN; Assel, M; Al Battat, MH; Thomas, S; Taylor, N; Chamberlain, A; Pope, J; Ni Raghallaigh, H; Evans, DG; Rothwell, J; Maehle, L; Grindedal, EM; James, P; Mascarenhas, L; McKinley, J; Side, L; Thomas, T; van Asperen, C; Vasen, H; Kiemeney, LA; Ringelberg, J; Jensen, TD; Osther, PJS; Helfand, BT; Genova, E; Oldenburg, RA; Cybulski, C; Wokolorczyk, D; Ong, KR; Huber, C; Lam, J; Taylor, L; Salinas, M; Feliubadalo, L; Oosterwijk, JC; van Zelst-Stams, W; Cook, J; Rosario, DJ; Domchek, S; Powers, J; Buys, S; O'Toole, K; Ausems, MGEM; Schmutzler, RK; Rhiem, K; Izatt, L; Tripathi, V; Teixeira, MR; Cardoso, M; Foulkes, WD; Aprikian, A; van Randeraad, H; Davidson, R; Longmuir, M; Ruijs, MWG; Helderman van den Enden, ATJM; Adank, M; Williams, R; Andrews, L; Murphy, DG; Halliday, D; Walker, L; Liljegren, A; Carlsson, S; Azzabi, A; Jobson, I; Morton, C; Shackleton, K; Snape, K; Hanson, H; Harris, M; Tischkowitz, M; Taylor, A; Kirk, J; Susman, R; Chen-Shtoyerman, R; Spigelman, A; Pachter, N; Ahmed, M; Cajal, TRY; Zgajnar, J; Brewer, C; Gadea, N; Brady, AF; van Os, T; Gallagher, D; Johannsson, O; Donaldson, A; Barwell, J; Nicolai, N; Friedman, E; Obeid, E; Greenhalgh, L; Murthy, V; Copakova, L; Saya, S; McGrath, J; Cooke, P; Ronlund, K; Richardson, K; Henderson, A; Teo, SH; Arun, B; Kast, K; Dias, A; Aaronson, NK; Ardern-Jones, A; Bangma, CH; Castro, E; Dearnaley, D; Eccles, DM; Tricker, K; Eyfjord, J; Falconer, A; Foster, C; Gronberg, H; Hamdy, FC; Stefansdottir, V; Khoo, V; Lindeman, GJ; Lubinski, J; Axcrona, K; Mikropoulos, C; Mitra, A; Moynihan, C; Rennert, G; Suri, M; Wilson, P; Dudderidge, T; Offman, J; Kote-Jarai, Z; Vickers, A; Lilja, H; Eeles, RA
(2019), Eur. Urol., 831-842
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Grolleman, JE; de Voer, RM; Elsayed, FA; Nielsen, M; Weren, RDA; Palles, C; Ligtenberg, MJL; Vos, JR; ten Broeke, SW; de Miranda, NFCC; Kuiper, RA; Kamping, EJ; Jansen, EAM; Vink-Borger, ME; Popp, I; Lang, A; Spier, I; Huneburg, R; James, PA; Li, N; Staninova, M; Lindsay, H; Cockburn, D; Spasic-Boskovic, O; Clendenning, M; Sweet, K; Capella, G; Sjursen, W; Hoberg-Vetti, H; Jongmans, MC; Neveling, K; van Kessel, AG; Morreau, H; Hes, FJ; Sijmons, RH; Schackert, HK; Ruiz-Ponte, C; Dymerska, D; Lubinski, J; Rivera, B; Foulkes, WD; Tomlinson, IP; Valle, L; Buchanan, DD; Kenwrick, S; Adlard, J; Dimovski, AJ; Campbell, IG; Aretz, S; Schindler, D; van Wezel, T; Hoogerbrugge, N; Kuiper, RP
(2019), Cancer Cell, 256-+
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients
Fortuno, C; Pesaran, T; Dolinsky, J; Yussuf, A; McGoldrick, K; Kho, PF; James, PA; Spurdle, AB
(2019), Cancer Genet., 21-27
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes
Dow, E; Winship, IM
(2019), Fam. Cancer, 91-95
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
Bien, SA; Su, YR; Conti, DV; Harrison, TA; Qu, CH; Guo, XY; Lu, YC; Albanes, D; Auer, PL; Banbury, BL; Berndt, SI; Bezieau, S; Brenner, H; Buchanan, DD; Caan, BJ; Campbell, PT; Carlson, CS; Chan, AT; Chang-Claude, J; Chen, S; Connolly, CM; Easton, DF; Feskens, EJM; Gallinger, S; Giles, GG; Gunter, MJ; Hampe, J; Huyghe, JR; Hoffmeister, M; Hudson, TJ; Jacobs, EJ; Jenkins, MA; Kampman, E; Kang, HM; Kuhn, T; Kury, S; Lejbkowicz, F; Le Marchand, L; Milne, RL; Li, L; Li, CI; Lindblom, A; Lindor, NM; Martin, V; McNeil, CE; Melas, M; Moreno, V; Newcomb, PA; Offit, K; Pharaoh, PDP; Potter, JD; Qu, CX; Riboli, E; Rennert, G; Sala, N; Schafmayer, C; Scacheri, PC; Schmit, SL; Severi, G; Slattery, ML; Smith, JD; Trichopoulou, A; Tumino, R; Ulrich, CM; van Duijnhoven, FJB; Van Guelpen, B; Weinstein, SJ; White, E; Wolk, A; Woods, MO; Wu, AH; Abecasis, GR; Casey, G; Nickerson, DA; Gruber, SB; Hsu, L; Zheng, W; Peters, U
(2019), Hum. Genet., 307-326
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
Georgeson, P; Walsh, MD; Clendenning, M; Daneshvar, S; Pope, BJ; Mahmood, K; Joo, JE; Jayasekara, H; Jenkins, MA; Winship, IM; Buchanan, DD
(2019), Mol. Genet. Genom. Med.
DOI: 10.1002/mgg3.781
Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?
Taylor, S; Rodrigues, M; Poke, G; Wake, S; McEwen, A
(2019), J. Genet. Couns., 1029-1041
DOI: 10.1002/jgc4.1156
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system
Martyn, M; Kanga-Parabia, A; Lynch, E; James, PA; Macciocca, I; Trainer, AH; Halliday, J; Keogh, L; Wale, J; Winship, I; Bogwitz, M; Valente, G; Walsh, M; Downie, L; Amor, D; Wallis, M; Cunningham, F; Burgess, M; Brown, NJ; Jarmolowicz, A; Lunke, S; Goranitis, I; Gaff, CL
(2019), J. Genet. Couns., 388-397
DOI: 10.1002/jgc4.1102
Mortality after breast cancer as a function of time since diagnosis by estrogen receptor status and age at diagnosis
Jayasekara, H; MacInnis, RJ; Chamberlain, JA; Dite, GS; Leoce, NM; Dowty, JG; Bickerstaffe, A; Win, AK; Milne, RL; Giles, GG; Terry, MB; Eccles, DM; Southey, MC; Hopper, JL
(2019), Int. J. Cancer, 3207-3217
DOI: 10.1002/ijc.32214
Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer
Li, N; McInerny, S; Zethoven, M; Cheasley, D; Lim, BWX; Rowley, SM; Devereux, L; Grewal, N; Ahmadloo, S; Byrne, D; Lee, JEA; Li, J; Fox, SB; John, T; Antill, Y; Gorringe, KL; James, PA; Campbell, IG
(2019), JNCI-J. Natl. Cancer Inst., 1332-1338
DOI: 10.1093/jnci/djz045
Premalignant lesions and gastric cancer: Current understanding
Koulis, A; Buckle, A; Boussioutas, A
(2019), World J. Gastrointest. Oncol., 665-678
Acute severe hepatitis with alemtuzumab and rechallenge after a year
Beattie, W; Yan, B; Sood, S
(2019), J. Clin. Neurosci., 158-160
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
Dominguez-Valentin, M; Seppala, TT; Sampson, JR; Macrae, F; Winship, I; Evans, DG; Scott, RJ; Burn, J; Moslein, G; Bernstein, I; Pylvanainen, K; Renkonen-Sinisalo, L; Lepisto, A; Lindblom, A; Plazzer, JP; Tjandra, D; Thomas, H; Green, K; Lalloo, F; Crosbie, EJ; Hill, J; Capella, G; Pineda, M; Navarro, M; Vidal, JB; Ronlund, K; Nielsen, RT; Yilmaz, M; Elvang, LL; Katz, L; Nielsen, M; ten Broeke, SW; Nakken, S; Hovig, E; Sunde, L; Kloor, M; Doeberitz, MV; Ahadova, A; Lindor, N; Steinke-Lange, V; Holinski-Feder, E; Mecklin, JP; Moller, P
(2019), Hered. Cancer Clin. Pract.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Seppala, TT; Ahadova, A; Dominguez-Valentin, M; Macrae, F; Evans, DG; Therkildsen, C; Sampson, J; Scott, R; Burn, J; Moslein, G; Bernstein, I; Holinski-Feder, E; Pylvanainen, K; Renkonen-Sinisalo, L; Lepisto, A; Lautrup, CK; Lindblom, A; Plazzer, JP; Winship, I; Tjandra, D; Katz, LH; Aretz, S; Huneburg, R; Holzapfel, S; Heinimann, K; Della Valle, A; Neffa, F; Gluck, N; Cappel, WHDTN; Vasen, H; Morak, M; Steinke-Lange, V; Engel, C; Rahner, N; Schmiegel, W; Vangala, D; Thomas, H; Green, K; Lalloo, F; Crosbie, EJ; Hill, J; Capella, G; Pineda, M; Navarro, M; Blanco, I; ten Broeke, S; Nielsen, M; Ljungmann, K; Nakken, S; Lindor, N; Frayling, I; Hovig, E; Sunde, L; Kloor, M; Mecklin, JP; Kalager, M; Moller, P
(2019), Hered. Cancer Clin. Pract.
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene
Beard, C; Purvis, R; Winship, IM; Macrae, FA; Buchanan, DD
(2019), Fam. Cancer, 311-315
Safety and Acceptability of Esophageal Cytosponge Cell Collection Device in a Pooled Analysis of Data From Individual Patients
Januszewicz, W; Tan, WK; Lehovsky, K; Debiram-Beecham, I; Nuckcheddy, T; Moist, S; Kadri, S; di Pietro, M; Boussioutas, A; Shaheen, NJ; Katzka, DA; Dellon, ES; Fitzgerald, RC
(2019), Clin. Gastroenterol. Hepatol., 647-+
Macrophage spatial heterogeneity in gastric cancer defined by multiplex immunohistochemistry
Huang, YK; Wang, MY; Sun, Y; Di Costanzo, N; Mitchell, C; Achuthan, A; Hamilton, JA; Busuttil, RA; Boussioutas, A
(2019), Nat. Commun.
Latest thinking on paruresis and parcopresis A new distinct diagnostic entity?
Kuoch, KLJ; Austin, DW; Knowles, SR
(2019), Aust. J. Gen. Pract., 212-215
Development and Validation of the Bladder and Bowel Incontinence Phobia Severity Scale
Kuoch, KLJ; Meyer, D; Austin, DW; Knowles, SR
(2019), J. Cogn. Psychother., 271-285
Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol
Morrow, A; Hogden, E; Kang, YJ; Steinberg, J; Canfell, K; Solomon, MJ; Kench, JG; Gill, AJ; Shaw, T; Pachter, N; Parkinson, B; Wolfenden, L; Mitchell, G; Macrae, F; Tucker, K; Taylor, N
(2019), Trials
Outcomes of screening and surveillance in people with two parents affected by colorectal cancers: experiences from the Familial Bowel Cancer Service
Pan, J; Slattery, M; Shea, N; Macrae, F
(2019), Hered. Cancer Clin. Pract.
Costs and Cost-Effectiveness of Targeted, Personalized Risk Information to Increase Appropriate Screening by First-Degree Relatives of People With Colorectal Cancer
Reeves, P; Doran, C; Carey, M; Cameron, E; Sanson-Fisher, R; Macrae, F; Hill, D
(2019), Health Educ. Behav., 798-808
Trends in Colon and Rectal Cancer Incidence in Australia from 1982 to 2014: Analysis of Data on Over 375,000 Cases
Feletto, E; Yu, XQ; Lew, JB; St John, DJB; Jenkins, MA; Macrae, FA; Mahady, SE; Canfell, K
(2019), Cancer Epidemiol. Biomarkers Prev., 83-90
The Upper Gastrointestinal Cancer Registry (UGICR): a clinical quality registry to monitor and improve care in upper gastrointestinal cancers
Maharaj, AD; Holland, JF; Scarborough, RO; Evans, SM; Ioannou, LJ; Brown, W; Croagh, DG; Pilgrim, CHC; Kench, JG; Lipton, LR; Leong, T; McNeil, JJ; Nikfarjam, M; Aly, A; Burton, PR; Cashin, PA; Chu, JL; Duong, CP; Evans, P; Goldstein, D; Haydon, A; Hii, MW; Knowles, BPF; Merrett, ND; Michael, M; Neale, RE; Philip, J; Porter, IWT; Smith, M; Spillane, J; Tagkalidis, PP; Zalcberg, JR
(2019), BMJ Open
Cytokine release and gastrointestinal symptoms after gluten challenge in celiac disease
Goel, G; Tye-Din, JA; Qiao, SW; Russell, AK; Mayassi, T; Ciszewski, C; Sarna, VK; Wang, S; Goldstein, KE; Dzuris, JL; Williams, LJ; Xavier, RJ; Lundin, KEA; Jabri, B; Sollid, LM; Anderson, RP
(2019), Sci. Adv.
Outcome of hospital outpatient treatment of functional gastrointestinal disorders
Basnayake, C; Kamm, MA; Salzberg, M; Stanley, A; Khera, A; Burrell, K; Wilson-O'Brien, A; Hebbard, G; Thompson, AJ
(2019), Intern. Med. J., 225-231
DOI: 10.1111/imj.14067
Elevated serum interleukin-2 after gluten correlates with symptoms and is a potential diagnostic biomarker for coeliac disease
Tye-Din, JA; Daveson, AJM; Ee, HC; Goel, G; MacDougall, J; Acaster, S; Goldstein, KE; Dzuris, JL; Neff, KM; Truitt, KE; Anderson, RP
(2019), Aliment. Pharmacol. Ther., 901-910
DOI: 10.1111/apt.15477