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.
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
Analgesic use and the risk of renal cell carcinoma-Findings from the Consortium for the Investigation of Renal Malignancies (CONFIRM) study
Bruinsma, FJ; Jordan, S; Bassett, JK; Severi, G; MacInnis, RJ; Walsh, J; Aitken, T; Jenkins, M; Carroll, R; Jefford, M; Davis, ID; Tucker, K; Dudding-Byth, T; English, DR; Giles, GG; Winship, I; Milne, RL
(2021), Cancer Epidemiol.
Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt-Hogg-Dube syndrome
Bajwa, DS; Cook, S; Winn, R; Winship, IM; McQueen, A; Husain, A; Rajan, N
(2021), Br. J. Dermatol., 861-863
DOI: 10.1111/bjd.20521
Single cell transcriptome atlas of mouse mammary epithelial cells across development
Pal, B; Chen, YS; Milevskiy, MJG; Vaillant, F; Prokopuk, L; Dawson, CA; Capaldo, BD; Song, XY; Jackling, F; Timpson, P; Lindeman, GJ; Smyth, GK; Visvader, JE
(2021), Breast Cancer Res.
Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper
Cousens, NE; Tiller, J; Meiser, B; Barlow-Stewart, K; Rowley, S; Ko, YA; Mahale, S; Campbell, IG; Kaur, R; Bankier, A; Burnett, L; Jacobs, C; James, PA; Trainer, A; Neil, S; Delatycki, MB; Andrews, L
(2021), BMJ Open
Study protocol: the Australian genetics and life insurance moratorium-monitoring the effectiveness and response (A-GLIMMER) project
Tiller, J; McInerney-Leo, A; Belcher, A; Boughtwood, T; Gleeson, P; Delatycki, M; Barlow-Stewart, K; Winship, I; Otlowski, M; Keogh, L; Lacaze, P
(2021), BMC Med. Ethics
Benefits and burdens of risk management for young people with inherited cancer A focus on Li-Fraumeni syndrome
Shepherd, RF; Keogh, LA; Werner-Lin, A; Delatycki, MB; Forrest, LE
(2021), Aust. J. Gen. Pract., 538-544
Response to Li and Hopper
Thomas, M; Sakoda, LC; Hoffmeister, M; Rosenthal, EA; Lee, JK; van Duijnhoven, FJB; Platz, EA; Wu, AH; Dampier, CH; de la Chapelle, A; Wolk, A; Joshi, AD; Burnett-Hartman, A; Gsur, A; Lindblom, A; Castells, A; Kowin, A; Namjou, B; Van Guelpen, B; Tangen, CM; He, QC; Li, CI; Schafmayer, C; Joshu, CE; Ulrich, CM; Bishop, DT; Buchanan, DD; Schaid, D; Drew, DA; Muller, DC; Duggan, D; Crosslin, DR; Albanes, D; Giovannucci, EL; Larson, E; Qu, F; Mentch, F; Giles, GG; Hakonarson, H; Hampel, H; Stanaway, IB; Figueiredo, JC; Huyghe, JR; Minnier, J; Chang-Claude, J; Hampe, J; Harley, JB; Visvanathan, K; Curtis, KR; Offit, K; Li, L; Le Marchand, L; Vodickova, L; Gunter, MJ; Jenkins, MA; Slattery, ML; Lemire, M; Woods, MO; Song, MY; Murphy, N; Lindor, NM; Dikilitas, O; Pharoah, PDP; Campbell, PT; Newcomb, PA; Milne, RL; MacInnis, RJ; Castellvi-Bel, S; Ogino, S; Berndt, SI; Bezieau, S; Thibodeau, SN; Gallinger, SJ; Zaidi, SH; Harrison, TA; Keku, TO; Hudson, TJ; Vymetalkova, V; Moreno, V; Martin, V; Arndt, V; Wei, WQ; Chung, W; Su, YR; Hayes, RB; White, E; Vodicka, P; Casey, G; Gruber, SB; Schoen, RE; Chan, AT; Potter, JD; Brenner, H; Jarvik, GP; Corley, DA; Peters, U; Hsu, L
(2021), Am. J. Hum. Genet., 527-529
Associations of Height With the Risks of Colorectal and Endometrial Cancer in Persons With Lynch Syndrome
Brouwer, JGM; Newcomb, PA; Bisseling, TM; Figueiredo, JC; Hopper, JL; Jenkins, MA; Koornstra, JJ; Lindor, NM; Vasen, HFA; Win, AK; Kampman, E; van Duijnhoven, FJB
(2021), Am. J. Epidemiol., 230-238
DOI: 10.1093/aje/kwaa175
Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population
Riaz, M; Huq, A; Ryan, J; Orchard, SG; Tiller, J; Lockery, J; Woods, RL; Wolfe, R; Renton, AE; Goate, AM; Sebra, R; Schadt, E; Brodtmann, A; Shah, RC; Storey, E; Murray, AM; McNeil, JJ; Lacaze, P
(2021), Aging Cell
DOI: 10.1111/acel.13384
Outcomes of community-based hepatitis C treatment by general practitioners and nurses in Australia through remote specialist consultation
Haridy, J; Iyngkaran, G; Nicoll, A; Muller, K; Wilson, M; Wigg, A; Ramachandran, J; Nelson, R; Bloom, S; Sasadeusz, J; Watkinson, S; Colman, A; Altus, R; Tilley, E; Stewart, J; Hebbard, G; Liew, D; Tse, E
(2021), Intern. Med. J., 1927-1934
DOI: 10.1111/imj.15037
Efficacy and Safety of Sofosbuvir/Velpatasvir/Voxilaprevir for Hepatitis C Virus (HCV) NS5A-Inhibitor Experienced Patients With Difficult to Cure Characteristics
Papaluca, T; Roberts, SK; Strasser, SI; Stuart, KA; Farrell, G; MacQuillan, G; Dore, GJ; Wade, AJ; George, J; Hazeldine, S; O'Beirne, J; Wigg, A; Fisher, L; McGarity, B; Sawhney, R; Sinclair, M; Thomas, J; Valiozis, I; Weltman, M; Wilson, M; Woodward, A; Ahlenstiel, G; Haque, M; Levy, M; Prewett, E; Sievert, W; Sood, S; Tse, E; Valaydon, Z; Bowden, S; Douglas, M; New, K; O'Keefe, J; Hellard, M; Doyle, J; Stoove, M; Thompson, AJ
(2021), Clin. Infect. Dis., E3288-E3295
DOI: 10.1093/cid/ciaa1318
Hydroxychloroquine inhibits the mitochondrial antioxidant system in activated T cells
Kim, ML; Hardy, MY; Edgington-Mitchell, LE; Ramarathinam, SH; Chung, SZ; Russell, AK; Currie, I; Sleebs, BE; Purcell, AW; Tye-Din, JA; Wicks, IP
(2021), iScience
Letter: SARS-CoV-2 infection in two inflammatory bowel disease patients treated with dual targeted therapy-Authors' reply
Al-Ani, AH; Prentice, RE; Rentsch, C; Christensen, B
(2021), Aliment. Pharmacol. Ther., 766-767
DOI: 10.1111/apt.16287
Review article: investigation and management of internal fistulae in Crohn's disease
Tjandra, D; Garg, M; Behrenbruch, C; McCormick, J; Simkin, P; Prentice, R; Trinh, A; Al-Ani, A; Vaughan, R; Macrae, F; Christensen, B
(2021), Aliment. Pharmacol. Ther., 1064-1079
DOI: 10.1111/apt.16326
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
Dominguez-Valentin, M; Plazzer, JP; Sampson, JR; Engel, C; Aretz, S; Jenkins, MA; Sunde, L; Bernstein, I; Capella, G; Balaguer, F; Macrae, F; Winship, IM; Thomas, H; Evans, DG; Burn, J; Greenblatt, M; Cappel, WHDTN; Sijmons, RH; Nielsen, M; Bertario, L; Bonanni, B; Tibiletti, MG; Cavestro, GM; Lindblom, A; Della Valle, A; Lopez-Kostner, F; Alvarez, K; Gluck, N; Katz, L; Heinimann, K; Vaccaro, CA; Nakken, S; Hovig, E; Green, K; Lalloo, F; Hill, J; Vasen, HFA; Perne, C; Buttner, R; Gorgens, H; Holinski-Feder, E; Morak, M; Holzapfel, S; Huneburg, R; Doeberitz, MV; Loeffler, M; Rahner, N; Weitz, J; Steinke-Lange, V; Schmiegel, W; Vangala, D; Crosbie, EJ; Pineda, M; Navarro, M; Brunet, J; Moreira, L; Sanchez, A; Serra-Burriel, M; Mints, M; Kariv, R; Rosner, G; Pinero, TA; Pavicic, WH; Kalfayan, P; ten Broeke, SW; Mecklin, JP; Pylvanainen, K; Renkonen-Sinisalo, L; Lepisto, A; Peltomaki, P; Hopper, JL; Win, AK; Buchanan, DD; Lindor, NM; Gallinger, S; Le Marchand, L; Newcomb, PA; Figueiredo, JC; Thibodeau, SN; Therkildsen, C; Hansen, TVO; Lindberg, L; Rodland, EA; Neffa, F; Esperon, P; Tjandra, D; Moslein, G; Seppala, TT; Moller, P
(2021), J. Clin. Med.
DOI: 10.3390/jcm10132856
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Bancroft, EK; Page, EC; Brook, MN; Thomas, S; Taylor, N; Pope, J; McHugh, J; Jones, AB; Karlsson, Q; Merson, S; Ong, KR; Hoffman, J; Huber, C; Maehle, L; Grindedal, EM; Stormorken, A; Evans, DG; Rothwell, J; Lalloo, F; Brady, AF; Bartlett, M; Snape, K; Hanson, H; James, P; McKinley, J; Mascarenhas, L; Syngal, S; Ukaegbu, C; Side, L; Thomas, T; Barwell, J; Teixeira, MR; Izatt, L; Suri, M; Macrae, FA; Poplawski, N; Chen-Shtoyerman, R; Ahmed, M; Musgrave, H; Nicolai, N; Greenhalgh, L; Brewer, C; Pachter, N; Spigelman, AD; Azzabi, A; Helfand, BT; Halliday, D; Buys, S; Cajal, TRY; Donaldson, A; Cooney, KA; Harris, M; McGrath, J; Davidson, R; Taylor, A; Cooke, P; Myhill, K; Hogben, M; Aaronson, NK; Ardern-Jones, A; Bangma, CH; Castro, E; Dearnaley, D; Dias, A; Dudderidge, T; Eccles, DM; Green, K; Eyfjord, J; Falconer, A; Foster, CS; Gronberg, H; Hamdy, FC; Johannsson, O; Khoo, V; Lilja, H; Lindeman, GJ; Lubinski, J; Axcrona, K; Mikropoulos, C; Mitra, AV; Moynihan, C; Raghallaigh, HN; Rennert, G; Collier, R; Offman, J; Kote-Jarai, Z; Eeles, RA
(2021), Lancet Oncol., 1618-1631
Genetic variant interpretation: a primer for clinicians
Kaushik, V; Plazzer, JP; Winship, I; Macrae, F
(2021), Intern. Med. J., 1401-1406
DOI: 10.1111/imj.15485
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Dominguez-Valentin, M; Crosbie, EJ; Engel, C; Aretz, S; Macrae, F; Winship, I; Capella, G; Thomas, H; Nakken, S; Hovig, E; Nielsen, M; Sijmons, RH; Bertario, L; Bonanni, B; Tibiletti, MG; Cavestro, GM; Mints, M; Gluck, N; Katz, L; Heinimann, K; Vaccaro, CA; Green, K; Lalloo, F; Hill, J; Schmiegel, W; Vangala, D; Perne, C; Strauss, HG; Tecklenburg, J; Holinski-Feder, E; Steinke-Lange, V; Mecklin, JP; Plazzer, JP; Pineda, M; Navarro, M; Vidal, JB; Kariv, R; Rosner, G; Pinero, TA; Gonzalez, ML; Kalfayan, P; Ryan, N; Ten Broeke, SW; Jenkins, MA; Sunde, L; Bernstein, I; Burn, J; Greenblatt, M; Cappel, WHDTN; Della Valle, A; Lopez-Koestner, F; Alvarez, K; Buttner, R; Gorgens, H; Morak, M; Holzapfel, S; Huneburg, R; Doeberitz, MV; Loeffler, M; Rahner, N; Weitz, J; Pylvanainen, K; Renkonen-Sinisalo, L; Lepisto, A; Auranen, A; Hopper, JL; Win, AK; Haile, RW; Lindor, NM; Gallinger, S; Le Marchand, L; Newcomb, PA; Figueiredo, JC; Thibodeau, SN; Therkildsen, C; Okkels, H; Ketabi, Z; Denton, OG; Rodland, EA; Vasen, H; Neffa, F; Esperon, P; Tjandra, D; Moslein, G; Sampson, JR; Evans, DG; Seppala, TT; Moller, P
(2021), Genet. Med., 705-712
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
Chan, JM; Clendenning, M; Joseland, S; Georgeson, P; Mahmood, K; Walker, R; Como, J; Joo, JE; Preston, S; Hutchinson, RA; Pope, BJ; Metz, A; Beard, C; Purvis, R; Arnold, J; Vijay, V; Konycheva, G; Atkinson, N; Parry, S; Jenkins, MA; Macrae, FA; Rosty, C; Winship, IM; Buchanan, DD
(2021), Fam. Cancer
Risk perception and knowledge of COVID-19 in patients with celiac disease
Zhen, J; Stefanolo, JP; Temprano, MD; Seiler, CL; Caminero, A; De-Madaria, E; Huguet, MM; Santiago, V; Niveloni, SI; Smecuol, EG; Dominguez, LU; Trucco, E; Lopez, V; Olano, C; Mansueto, P; Carroccio, A; Green, PH; Duerksen, D; Day, AS; Tye-Din, JA; Bai, JC; Ciacci, C; Verdu, EF; Lebwohl, B; Pinto-Sanchez, MI
(2021), World J. Gastroenterol., 1213-1225
The Impact of Diagnostic Status on Quality of Life in Irritable Bowel Syndrome
Cassar, GE; Youssef, JG; Knowles, SR; Moulding, R; Austin, D
(2021), Turk. J. Gastroenterol., 808-818