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.
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study
Li, N; Lim, BWX; Thompson, ER; McInerny, S; Zethoven, M; Cheasley, D; Rowley, SM; Wong-Brown, MW; Devereux, L; Gorringe, KL; Sloan, EK; Trainer, A; Scott, RJ; James, PA; Campbell, IG
(2021), npj Breast Cancer
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Li, N; Zethoven, M; McInerny, S; Devereux, L; Huang, YK; Thio, N; Cheasley, D; Gutierrez-Enriquez, S; Moles-Fernandez, A; Diez, O; Nguyen-Dumont, T; Southey, MC; Hopper, JL; Simard, J; Dumont, M; Soucy, P; Meindl, A; Schmutzler, R; Schmidt, MK; Adank, MA; Andrulis, IL; Hahnen, E; Engel, C; Lesueur, F; Girard, E; Neuhausen, SL; Ziv, E; Allen, J; Easton, DF; Scott, RJ; Gorringe, KL; James, PA; Campbell, IG
(2021), npj Breast Cancer
Intravital microscopy of dynamic single-cell behavior in mouse mammary tissue
Dawson, CA; Mueller, SN; Lindeman, GJ; Rios, AC; Visvader, JE
(2021), Nat. Protoc., 1907
Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2)
Swisher, EM; Kwan, TT; Oza, AM; Tinker, AV; Ray-Coquard, I; Oaknin, A; Coleman, RL; Aghajanian, C; Konecny, GE; O'Malley, DM; Leary, A; Provencher, D; Welch, S; Chen, LM; Hendrickson, AEW; Ma, L; Ghatage, P; Kristeleit, RS; Dorigo, O; Musafer, A; Kaufmann, SH; Elvin, JA; Lin, DI; Chambers, SK; Dominy, E; Vo, LT; Goble, S; Maloney, L; Giordano, H; Harding, T; Dobrovic, A; Scott, CL; Lin, KK; McNeish, IA
(2021), Nat. Commun.
Mammary tumour cells remodel the bone marrow vascular microenvironment to support metastasis
Yip, RKH; Rimes, JS; Capaldo, BD; Vaillant, F; Mouchemore, KA; Pal, B; Chen, YS; Surgenor, E; Murphy, AJ; Anderson, RL; Smyth, GK; Lindeman, GJ; Hawkins, ED; Visvader, JE
(2021), Nat. Commun.
Monitoring the genetic testing and life insurance moratorium in Australia: a national research project
Tiller, J; Winship, I; Otlowski, MF; Lacaze, PA
(2021), Med. J. Aust., 157
DOI: 10.5694/mja2.50922
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion
Akesson, LS; Francis, D; de Silva, MG; Cole, T; Simm, P; Oliver, M; White, SM
(2021), J. Paediatr. Child Health, 1109-1112
DOI: 10.1111/jpc.15124
Clinically Responsive Genomic Analysis Pipelines Elements to Improve Detection Rate and Efficiency
Sundercombe, SL; Berbic, M; Evans, CA; Cliffe, C; Elakis, G; Temple, SEL; Selvanathan, A; Ewans, L; Quayum, N; Nixon, CY; Dias, KR; Lang, S; Richards, A; Goh, S; Wilson, M; Mowat, D; Sachdev, R; Sandaradura, S; Walsh, M; Farrar, MA; Walsh, R; Fletcher, J; Kirk, EP; Teunisse, GM; Scho, D; Buckley, MF; Zhu, Y; Roscioli, T
(2021), J. Mol. Diagn., 894-905
Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: 'Another piece of the pie'
Willis, AM; Smith, SK; Meiser, B; James, PA; Ballinger, ML; Thomas, DM; Yanes, T; Young, MA
(2021), J. Genet. Couns., 849-860
DOI: 10.1002/jgc4.1384
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