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.
The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline
Wagner, A; Aretz, S; Auranen, A; Bruno, MJ; Cavestro, GM; Crosbie, EJ; Goverde, A; Jelsig, AM; Latchford, AR; van Leerdam, ME; Lepisto, AH; Puzzono, M; Winship, I; Zuber, V; Moslein, G
(2021), J. Clin. Med.
DOI: 10.3390/jcm10030473
DNA methylation-based signature of CD8+tumor-infiltrating lymphocytes enables evaluation of immune response and prognosis in colorectal cancer
Zou, Q; Wang, XL; Ren, DL; Hu, B; Tang, GN; Zhang, Y; Huang, MJ; Pai, RK; Buchanan, DD; Win, AK; Newcomb, PA; Grady, WM; Yu, HCA; Luo, YX
(2021), J. Immunother. Cancer
Common Susceptibility Loci for Male Breast Cancer
Maguire, S; Perraki, E; Tomczyk, K; Jones, ME; Fletcher, O; Pugh, M; Winter, T; Thompson, K; Cooke, R; Trainer, A; James, P; Bojesen, S; Flyger, H; Nevanlinna, H; Mattson, J; Friedman, E; Laitman, Y; Palli, D; Masala, G; Zanna, I; Ottini, L; Silvestri, V; Hollestelle, A; Hooning, MJ; Novakovic, S; Krajc, M; Gago-Dominguez, M; Castelao, JE; Olsson, H; Hedenfalk, I; Saloustros, E; Georgoulias, V; Easton, DF; Pharoah, P; Dunning, AM; Bishop, DT; Neuhausen, SL; Steele, L; Ashworth, A; Closas, MG; Houlston, R; Swerdlow, A; Orr, N
(2021), JNCI-J. Natl. Cancer Inst., 453-461
DOI: 10.1093/jnci/djaa101
Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome
Petelin, L; Trainer, AH
(2021), JAMA Netw. Open
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit
Austin, R; Quinn, MCJ; Afoakwah, C; Metke-Jimenez, A; Leroux, H; Atherton, J; Brown, JS; Wornham, LJ; Macciocca, I; de Silva, MG; Thompson, T; Martin, EM; Hilton, D; Devery, S; Wu, KHC; Jackson, MR; Correnti, G; Overkov, A; Elbracht-Leong, S; Ingles, J; Scuffham, P; Semsarian, C; McGaughran, J
(2021), Int. J. Cardiol., 128-134
Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer
Kho, PF; Amant, F; Annibali, D; Ashton, K; Attia, J; Auer, PL; Beckmann, MW; Black, A; Brinton, L; Buchanan, DD; Chanock, SJ; Chen, C; Chen, MEM; Cheng, THT; Cook, LS; Crous-Bous, M; Czene, K; De Vivo, I; Dennis, J; Dork, T; Dowdy, SC; Dunning, AM; Durst, M; Easton, DF; Ekici, AB; Fasching, PA; Fridley, BL; Friedenreich, CM; Garcia-Closas, M; Gaudet, MM; Giles, GG; Goode, EL; Gorman, M; Haiman, CA; Hall, P; Hankinson, SE; Hein, A; Hillemanns, P; Hodgson, S; Hoivik, EA; Holliday, EG; Hunter, DJ; Jones, A; Kraft, P; Krakstad, C; Lambrechts, D; Le Marchand, L; Liang, XL; Lindblom, A; Lissowska, J; Long, JR; Lu, LE; Magliocco, AM; Martin, L; McEvoy, M; Milne, RL; Mints, M; Nassir, R; Otton, G; Palles, C; Pooler, L; Proietto, T; Rebbeck, TR; Renner, SP; Risch, HA; Rubner, M; Runnebaum, I; Sacerdote, C; Sarto, GE; Schumacher, F; Scott, RJ; Setiawan, VW; Shah, MT; Sheng, X; Shu, XO; Southey, MC; Tham, E; Tomlinson, I; Trovik, J; Turman, C; Tyrer, JP; van den Berg, D; Wang, ZM; Wentzensen, N; Xia, L; Xiang, YB; Yang, HNP; Yu, HR; Zheng, W; Webb, PM; Thompson, DJ; Spurdle, AB; Glubb, DM; O'Mara, TA
(2021), Int. J. Cancer, 307-319
DOI: 10.1002/ijc.33206
Mainstreaming genomics: training experience of hospital medical officers at the Royal Melbourne Hospital
Huq, AJ; Healy, L; Gorelik, A; Forrest, LE; Winship, IM
(2021), Intern. Med. J., 268-271
DOI: 10.1111/imj.15185
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer
Johnatty, SE; Pesaran, T; Dolinsky, J; Yussuf, A; LaDuca, H; James, PA; O'Mara, TA; Spurdle, AB
(2021), Hum. Mutat., 1265-1278
DOI: 10.1002/humu.24256
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy
Fortuno, C; Pesaran, T; Dolinsky, J; Yussuf, A; McGoldrick, K; Tavtigian, SV; Goldgar, D; Spurdle, AB; James, PA
(2021), Hum. Mutat., 1351-1361
DOI: 10.1002/humu.24264
Left in limbo: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis
den Elzen, N; Joseland, SL; Saya, S; Jonnagadla, S; Isbister, J; Winship, I; Buchanan, DD
(2021), Hered. Cancer Clin. Pract.
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice
Meiser, B; Kaur, R; Morrow, A; Peate, M; Wong, WKT; McPike, E; Cops, E; Nichols, C; Austin, R; Fine, M; Thrupp, L; Ward, R; Macrae, F; Hiller, JE; Trainer, AH; Mitchell, G
(2021), Hered. Cancer Clin. Pract.
Genetic architectures of proximal and distal colorectal cancer are partly distinct
Huyghe, JR; Harrison, TA; Bien, SA; Hampel, H; Figueiredo, JC; Schmit, SL; Conti, DV; Chen, S; Qu, CH; Lin, Y; Barfield, R; Baron, JA; Cross, AJ; Diergaarde, B; Duggan, D; Harlid, S; Imaz, L; Kang, HM; Levine, DM; Perduca, V; Perez-Cornago, A; Sakoda, LC; Schumacher, FR; Slattery, ML; Toland, AE; van Duijnhoven, FJB; Van Guelpen, B; Agudo, A; Albanes, D; Alonso, MH; Anderson, K; Arnau-Collell, C; Arndt, V; Banbury, BL; Bassik, MC; Berndt, SI; Bezieau, S; Bishop, DT; Boehm, J; Boeing, H; Boutron-Ruault, MC; Brenner, H; Brezina, S; Buch, S; Buchanan, DD; Burnett-Hartman, A; Caan, BJ; Campbell, PT; Carr, PR; Castells, A; Castellvi-Bel, S; Chan, AT; Chang-Claude, J; Chanock, SJ; Curtis, KR; de la Chapelle, A; Easton, DF; English, DR; Feskens, EJM; Gala, M; Gallinger, SJ; Gauderman, WJ; Giles, GG; Goodman, PJ; Grady, WM; Grove, JS; Gsur, A; Gunter, MJ; Haile, RW; Hampe, J; Hoffmeister, M; Hopper, JL; Hsu, WL; Huang, WY; Hudson, TJ; Jenab, M; Jenkins, MA; Joshi, AD; Keku, TO; Kooperberg, C; Kuhn, T; Kury, S; Le Marchand, L; Lejbkowicz, F; Li, CI; Li, L; Lieb, W; Lindblom, A; Lindor, NM; Mannisto, S; Markowitz, SD; Milne, RL; Moreno, L; Murphy, N; Nassir, R; Offit, K; Ogino, S; Panico, S; Parfrey, PS; Pearlman, R; Pharoah, PDP; Phipps, AI; Platz, EA; Potter, JD; Prentice, RL; Qi, LH; Raskin, L; Rennert, G; Rennert, HS; Riboli, E; Schafmayer, C; Schoen, RE; Seminara, D; Song, M; Su, YR; Tangen, CM; Thibodeau, SN; Thomas, DC; Trichopoulou, A; Ulrich, CM; Visvanathan, K; Vodicka, P; Vodickova, L; Vymetalkova, V; Weigl, K; Weinstein, SJ; White, E; Wolk, A; Woods, MO; Wu, AH; Abecasis, GR; Nickerson, DA; Scacheri, PC; Kundaje, A; Casey, G; Gruber, SB; Hsu, L; Moreno, V; Hayes, RB; Newcomb, PA; Peters, U
(2021), Gut, 1325-1334
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Fierheller, CT; Guitton-Sert, L; Alenezi, WM; Revil, T; Oros, KK; Gao, YD; Bedard, K; Arcand, SL; Serruya, C; Behl, S; Meunier, L; Fleury, H; Fewings, E; Subramanian, DN; Nadaf, J; Bruce, JP; Bell, R; Provencher, D; Foulkes, WD; El Haffaf, Z; Mes-Masson, AM; Majewski, J; Pugh, TJ; Tischkowitz, M; James, PA; Campbell, IG; Greenwood, CMT; Ragoussis, J; Masson, JY; Tonin, PN
(2021), Genome Med.
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Richmond, CM; James, PA; Pantaleo, SJ; Chong, B; Lunke, S; Tan, TY; Macciocca, I
(2021), Genet. Med., 1108-1115
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior
Yanes, T; Meiser, B; Kaur, R; Young, MA; Mitchell, PB; Scheepers-Joynt, M; Mclnerny, S; Taylor, S; Barlow-Stewart, K; Antill, Y; Salmon, L; Smyth, C; Betz-Stablein, B; James, PA
(2021), Genet. Med., 2316-2323
Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study
Shepherd, RF; Forrest, LE; Tutty, E; Pearce, A; Devereux, L; James, PA; Campbell, IG; Trainer, A; Young, MA
(2021), Genet. Test. Mol. Biomark., 741-748
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment
Goranitis, I; Best, S; Christodoulou, J; Boughtwood, T; Stark, Z
(2021), Eur. J. Hum. Genet., 1645-1653
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre
Beard, C; Monohan, K; Cicciarelli, L; James, PA
(2021), Eur. J. Hum. Genet., 872-880
A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients
Wills, C; He, YZ; Summers, MG; Lin, Y; Phipps, AI; Watts, K; Law, PJ; Al-Tassan, NA; Maughan, TS; Kaplan, R; Houlston, RS; Peters, U; Newcomb, PA; Chan, AT; Buchanan, DD; Gallinger, S; Marchand, LL; Pai, RK; Shi, Q; Alberts, SR; Gray, V; West, HD; Escott-Price, V; Dunlop, MG; Cheadle, JP
(2021), Eur. J. Cancer, 247-258
An integrated mass spectrometry imaging and digital pathology workflow for objective detection of colorectal tumours by unique atomic signatures
Paul, B; Kysenius, K; Hilton, JB; Jones, MWM; Hutchinson, RW; Buchanan, DD; Rosty, C; Fryer, F; Bush, AI; Hergt, JM; Woodhead, JD; Bishop, DP; Doble, PA; Hill, MM; Crouch, PJ; Hare, DJ
(2021), Chem. Sci., 10321-10333
DOI: 10.1039/d1sc02237g
Association of FOXO3 Blood DNA Methylation with Cancer Risk, Cancer Survival, and Mortality
Yu, CL; Hodge, AM; Wong, EM; Joo, JE; Makalic, E; Schmidt, D; Buchanan, DD; Hopper, JL; Giles, GG; Southey, MC; Dugue, PA
(2021), Cells
Tetranucleotide and Low Microsatellite Instability Are Inversely Associated with the CpG Island Methylator Phenotype in Colorectal Cancer
Meessen, S; Currey, N; Jahan, Z; Parker, HW; Jenkins, MA; Buchanan, DD; Hopper, JL; Segelov, E; Dahlstrom, JE; Kohonen-Corish, MRJ
(2021), Cancers
Prospective Evaluation over 15 Years of Six Breast Cancer Risk Models
Li, SX; Milne, RL; Nguyen-Dumont, T; English, DR; Giles, GG; Southey, MC; Antoniou, AC; Lee, A; Winship, I; Hopper, JL; Terry, MB; MacInnis, RJ
(2021), Cancers
Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry
Nguyen-Dumont, T; Dowty, JG; Steen, JA; Renault, AL; Hammet, F; Mahmoodi, M; Theys, D; Rewse, A; Tsimiklis, H; Winship, IM; Giles, GG; Milne, RL; Hopper, JL; Southey, MC
(2021), Cancers
Genomic Risk Prediction for Breast Cancer in Older Women
Lacaze, P; Bakshi, A; Riaz, M; Orchard, SG; Tiller, J; Neumann, JT; Carr, PR; Joshi, AD; Cao, Y; Warner, ET; Manning, A; Nguyen-Dumont, T; Southey, MC; Milne, RL; Ford, L; Sebra, R; Schadt, E; Gately, L; Gibbs, P; Thompson, BA; Macrae, FA; James, P; Winship, I; McLean, C; Zalcberg, JR; Woods, RL; Chan, AT; Murray, AM; McNeil, JJ
(2021), Cancers
Epigenetic Drift Association with Cancer Risk and Survival, and Modification by Sex
Yu, CL; Wong, EM; Joo, JE; Hodge, AM; Makalic, E; Schmidt, D; Buchanan, DD; Severi, G; Hopper, JL; English, DR; Giles, GG; Southey, MC; Dugue, PA
(2021), Cancers
Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk
Zhu, JJ; O'Mara, TA; Liu, D; Setiawan, VW; Glubb, D; Spurdle, AB; Fasching, PA; Lambrechts, D; Buchanan, D; Kho, PF; Cook, LS; Friedenreich, C; Lacey, JV; Chen, C; Wentzensen, N; De Vivo, I; Sun, Y; Long, JR; Du, MM; Shu, XO; Zheng, W; Wu, L; Yu, H
(2021), Cancers
Genetically Predicted Circulating C-Reactive Protein Concentration and Colorectal Cancer Survival: A Mendelian Randomization Consortium Study
Hua, XW; Dai, JY; Lindstrom, S; Harrison, TA; Lin, Y; Alberts, SR; Alwers, E; Berndt, SI; Brenner, H; Buchanan, DD; Campbell, PT; Casey, G; Chang-Claude, J; Gallinger, S; Giles, GG; Goldberg, RM; Gunter, MJ; Hoffmeister, M; Jenkins, MA; Joshi, AD; Ma, WJ; Milne, RL; Murphy, N; Pai, RK; Sakoda, LC; Schoen, RE; Shi, Q; Slattery, ML; Song, MY; White, E; Le Marchand, L; Chan, AT; Peters, U; Newcomb, PA
(2021), Cancer Epidemiol. Biomarkers Prev., 1349-1358
Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers
Glubb, DM; Thompson, DJ; Aben, KKH; Alsulimani, A; Amant, F; Annibali, D; Attia, J; Barricarte, A; Beckmann, MW; Berchuck, A; Bermisheva, M; Bernardini, MQ; Bischof, K; Bjorge, L; Bodelon, C; Brand, AH; Brenton, JD; Brinton, LA; Bruinsma, F; Buchanan, DD; Burghaus, S; Butzow, R; Cai, H; Carney, ME; Chanock, SJ; Chen, C; Chen, XQ; Chen, ZH; Cook, LS; Cunningham, JM; De Vivo, I; DeFazio, A; Doherty, JA; Dork, T; du Bois, A; Dunning, AM; Durst, M; Edwards, T; Edwards, RP; Ekici, AB; Ewing, A; Fasching, PA; Ferguson, S; Flanagan, JM; Fostira, F; Fountzilas, G; Friedenreich, CM; Gao, B; Gaudet, MM; Gawelko, J; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goodman, MT; Gronwald, J; Harris, HR; Harter, P; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Hogdall, E; Hogdall, CK; Holliday, EG; Huntsman, DG; Huzarski, T; Jakubowska, A; Jensen, A; Jones, ME; Karlan, BY; Karnezis, A; Kelley, JL; Khusnutdinova, E; Killeen, JL; Kjaer, SK; Klapdor, R; Kobel, M; Konopka, B; Konstantopoulou, I; Kopperud, RK; Koti, M; Kraft, P; Kupryjanczyk, J; Lambrechts, D; Larson, MC; Le Marchand, L; Lele, S; Lester, J; Li, AJ; Liang, D; Liebrich, C; Lipworth, L; Lissowska, J; Lu, LG; Lu, KH; Macciotta, A; Mattiello, A; May, T; McAlpine, JN; McGuire, V; McNeish, IA; Menon, U; Modugno, F; Moysich, KB; Nevanlinna, H; Odunsi, K; Olsson, H; Orsulic, S; Osorio, A; Palli, D; Park-Simon, TW; Pearce, CL; Pejovic, T; Permuth, JB; Podgorska, A; Ramus, SJ; Rebbeck, TR; Riggan, MJ; Risch, HA; Rothstein, JH; Runnebaum, IB; Scott, RJ; Sellers, TA; Senz, J; Setiawan, VW; Siddiqui, N; Sieh, W; Spiewankiewicz, B; Sutphen, R; Swerdlow, AJ; Szafron, LM; Teo, SH; Thompson, PJ; Thomsen, LCV; Titus, L; Tone, A; Tumino, R; Turman, C; Vanderstichele, A; Edwards, DV; Vergote, I; Vierkant, RA; Wang, ZM; Wang-Gohrke, S; Webb, PM; White, E; Whittemore, AS; Winham, SJ; Wu, XF; Wu, AH; Yannoukakos, D; Spurdle, AB; O'Mara, TA
(2021), Cancer Epidemiol. Biomarkers Prev., 217-228
A Combined Proteomics and Mendelian Randomization Approach to Investigate the Effects of Aspirin-Targeted Proteins on Colorectal Cancer
Nounu, A; Greenhough, A; Heesom, KJ; Richmond, RC; Zheng, J; Weinstein, SJ; Albanes, D; Baron, JA; Hopper, JL; Figueiredo, JC; Newcomb, PA; Lindor, NM; Casey, G; Platz, EA; Le Marchand, L; Ulrich, CM; Li, CI; van Duijnhoven, FJB; Gsur, A; Campbell, PT; Moreno, V; Vodicka, P; Vodickova, L; Brenner, H; Chang-Claude, J; Hoffmeister, M; Sakoda, LC; Slattery, ML; Schoen, RE; Gunter, MJ; Castellvi-Bel, S; Kim, HR; Kweon, SS; Chan, AT; Li, L; Zheng, W; Bishop, DT; Buchanan, DD; Giles, GG; Gruber, SB; Rennert, G; Stadler, ZK; Harrison, TA; Lin, Y; Keku, TO; Woods, MO; Schafmayer, C; Van Guelpen, B; Gallinger, S; Hampel, H; Berndt, SI; Pharoah, PDP; Lindblom, A; Wolk, A; Wu, ANH; White, E; Peters, U; Drew, DA; Scherer, D; Bermejo, JL; Williams, AC; Relton, CL
(2021), Cancer Epidemiol. Biomarkers Prev., 564-575