Research & Publications


1.    Buchanan DD, Stewart JR, Clendenning M, Rosty C, Mahmood K, Pope BJ, Jenkins MA, Hopper JL, Southey MC, Macrae FA, Winship IM, Win AK. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genet Med. 2017 Nov 9. doi: 10.1038/gim.2017.185. [Epub ahead of print] PubMed PMID: 29120461
2.    Jenkins MA, Win AK, Templeton AS, Angelakos M, Buchanan DD, Cotterchio M, Figueiredo J, Thibodeau SN, Baron JA, Potter JD, Hopper JL, Casey G, Gallinger S, Le Marchand L, Lindor NM, Newcomb PA, Haile RW, Colon Cancer Family RCi. Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC). Int J Epidemiol. 2017;Accepted 20 Dec 2017.
3.    Clendenning M, Huang A, Jayasekara H, Lorans M, Preston S, O'Callaghan N, Pope BJ, Macrae FA, Winship IM, Milne RL, Giles GG, English DR, Hopper JL, Win AK, Jenkins MA, Southey MC, Rosty C, Buchanan DD; investigators from the Melbourne Collaborative Cohort Study and the Australasian Colorectal Cancer Family Registry Cohort. Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas. Fam Cancer. 2018;17(1):91-100.


1.    Walker JG, Bickerstaffe A, Hewabandu N, Maddumarachchi S, Dowty JG, Jenkins M, Pirotta M, Walter FM, Emery JD. (2017). The CRISP colorectal cancer risk prediction tool: an exploratory study using simulated consultations in Australian primary care. BMC Medical Informatics and Decision Making, 17(1), 1-11. DOI: 10.1186/s12911-017-0407-7
2.    Emery J, Saya S. (2017). Applying genomics to tailor colorectal cancer screening. EuroDigest, 1(4) 20-21
3.    Win AK, Jenkins MA, Dowty JG, Antoniou AC, Lee A, Giles GG, Buchanan DD, Clendenning M, Rosty C, Ahnen DJ, Thibodeau SN, Casey G, Gallinger S, Le Marchand L, Haile RW, Potter JD, Zheng Y, Lindor NM, Newcomb PA, Hopper JL, MacInnis RJ. Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev. 2017;26(3):404-412.
4.    Dashti SG, Buchanan DD, Jayasekara H, Ait Ouakrim D, Clendenning M, Rosty C, Winship IM, Macrae FA, Giles GG, Parry S, Casey G, Haile RW, Gallinger S, Le Marchand L, Thibodeau SN, Lindor NM, Newcomb PA, Potter JD, Baron JA, Hopper JL,  Jenkins MA, Win AK. Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers. Cancer Epidemiol Biomarkers Prev. 2017;26(3):366-375.
5.    Jayasekara H, Reece JC, Buchanan DD, Ahnen DJ, Parry S, Jenkins MA, Win AK. Risk factors for metachronous colorectal cancer or polyp: A systematic review and meta-analysis. J Gastroenterol Hepatol. 2017;32(2):301-326.
6.    Choi YH, Briollais L, Win AK, Hopper J, Buchanan D, Jenkins M, Lakhal-Chaieb L. Modeling of successive cancer risks in Lynch syndrome families in the presence of competing risks using copulas. Biometrics. 2017;73(1):271-82.
7.    Buchanan DD, Clendenning M, Rosty C, Eriksen SV, Walsh MD, Walters RJ, Thibodeau SN, Stewart J, Preston S, Win AK, Flander L, Ouakrim DA, Macrae FA, Boussioutas A, Winship IM, Giles GG, Hopper JL, Southey MC, English D, Jenkins MA. Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. J Gastroenterol Hepatol. 2017;32(2):427-438.
8.    Lindor NM, Larson MC, DeRycke MS, McDonnell SK, Baheti S, Fogarty ZC, Win AK, Potter JD, Buchanan DD, Clendenning M, Newcomb PA, Casey G, Gallinger S, Le Marchand L, Hopper JL, Jenkins MA, Goode EL, Thibodeau SN. Germline miRNA DNA variants and the risk of colorectal cancer by subtype. Genes Chromosomes Cancer.  2017;56(3):177-184.
9.    DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Mol Genet Genomic Med. 2017;5(5):553-569.


1.    Chau R, Dashti SG, Ait Ouakrim D, Buchanan DD, Clendenning M, Rosty C, et al. Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome. International journal of epidemiology. 2016.
2.    Kastrinos F, Ojha RP, Leenen C, Alvero C, Mercado RC, Balmana J, et al. Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. Journal of the National Cancer Institute. 2016;108(2).
3.    Jenkins MA, Makalic E, Dowty JG, Schmidt DF, Dite GS, MacInnis RJ, et al. Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening. Future oncology. 2016;12(4):503-13.
4.    Usher-Smith JA, Walter FM, Emery JD, Win AK, Griffin SJ. Risk Prediction Models for Colorectal Cancer: A Systematic Review. Cancer prevention research. 2016;9(1):13-26.


1.    Ait Ouakrim D, Pizot C, Boniol M, Malvezzi M, Boniol M, Negri E, et al. Trends in colorectal cancer mortality in Europe: a retrospective analysis of the WHO mortality database. BMJ. 2015;351:h4970.
2.    Chiang PPC, Glance D, Walker J, Walter FM, Emery JD. Implementing a QCancer® risk tool into General practice consultations: an Exploratory study using simulated consultations with Australian General Practitioners. British Journal of Cancer, 2015 112:S77-S83.
3.    Jenkins MA, Dowty JG, Ait Ouakrim D, Mathews JD, Hopper JL, Drouet Y, et al. Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis. Journal of clinical oncology: official journal of the American Society of Clinical Oncology. 2015;33(4):326-31.
4.    Reid GT, Walter FM, Emery JD. A qualitative evaluation of the psychosocial impact of family history screening in Australian primary care. Journal of genetic counseling. 2015;24(2):312-24.
5.    Walker J, Licqurish S, Chiang PPC, Pirotta M, Emery JD. Cancer Risk Assessment Tools in Primary Care: A Systematic Review of Randomized Controlled Trials. Annals of Family Medicine, 2015 13:5, pages 480-489.
6.    Win AK, Buchanan DD, Rosty C, MacInnis RJ, Dowty JG, Dite GS, et al. Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives. Gut. 2015;64(1):101-10.
7.    Win AK, Clendenning M, Crawford W, Rosty C, Preston SG, Southey MC, et al. Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome. Genes & cancer. 2015;6(11-12):445-51.


1.    Buchanan DD, Rosty C, Clendenning M, Spurdle AB, Win AK. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). The application of clinical genetics. 2014;7:183-93.
2.    Emery J, Chiang P. The role of risk tools in diagnosing cancer in primary care. Australian family physician. 2014;43(8):508-12.
3.    Flander L, Speirs-Bridge A, Rutstein A, Niven H, Win AK, Ait Ouakrim D, et al. Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing. Journal of genetic counseling. 2014;23(1):79-88.
4.    Newton K, Jorgensen NM, Wallace AJ, Buchanan DD, Lalloo F, McMahon RF, et al. Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC). Journal of medical genetics. 2014;51(12):789-96.
5.    Ouakrim DA, Boussioutas A, Lockett T, Hopper JL, Jenkins MA. Cost-effectiveness of family history-based colorectal cancer screening in Australia. BMC cancer. 2014;14:261.
6.    Plazzer JP, Macrae F. DNA variant databases: current state and future directions. Methods in molecular biology. 2014;1168:263-73.
7.    Rosty C, Williamson EJ, Clendenning M, Walters RJ, Walsh MD, Win AK, et al. Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication. Journal of the National Cancer Institute. 2014;106(8).
8.    Stupart D, Win AK, Jenkins M, Winship IM, Goldberg P, Ramesar R. Fertility and apparent genetic anticipation in Lynch syndrome. Familial cancer. 2014;13(3):369-74.
9.    Whiffin N, Hosking FJ, Farrington SM, Palles C, Dobbins SE, Zgaga L, et al. Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. Human molecular genetics. 2014;23(17):4729-37.
10.    Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014;146(5):1208-11 e1-5.