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The Genetics of Barrett's Esophagus: A Familial and Population-Based Perspective.
Published in:
2016
By:
- To, Henry;
- Clemons, Nicholas;
- Duong, Cuong;
- Trainer, Alison;
- Phillips, Wayne;
- Clemons, Nicholas J;
- Duong, Cuong P;
- Trainer, Alison H;
- Phillips, Wayne A
Publication type:
journal article
The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1112, doi. 10.3390/jpm12071112
By:
- Forrest, Laura E.;
- Forbes Shepherd, Rowan;
- Tutty, Erin;
- Pearce, Angela;
- Campbell, Ian;
- Devereux, Lisa;
- Trainer, Alison H.;
- James, Paul A.;
- Young, Mary-Anne
Publication type:
Article
Exploring Implementation of Personal Breast Cancer Risk Assessments.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 10, p. 992, doi. 10.3390/jpm11100992
By:
- Sierra, Maria A.;
- Wheeler, Jack C. W.;
- Devereux, Lisa;
- Trainer, Alison H.;
- Keogh, Louise
Publication type:
Article
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.
Published in:
Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00180-3
By:
- Meiser, Bettina;
- Kaur, Rajneesh;
- Morrow, April;
- Peate, Michelle;
- Wong, W. K. Tim;
- McPike, Emily;
- Cops, Elisa;
- Nichols, Cassandra;
- Austin, Rachel;
- Fine, Miriam;
- Thrupp, Letitia;
- Ward, Robyn;
- Macrae, Finlay;
- Hiller, Janet E.;
- Trainer, Alison H.;
- Mitchell, Gillian;
- for the ICCon Audit Study Collaborative Group;
- Susman, R.;
- Pachter, N.;
- Goodwin, A.
Publication type:
Article
A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 388, doi. 10.1002/jgc4.1102
By:
- Wale, Janney;
- Martyn, Melissa;
- Kanga‐Parabia, Anaita;
- Gaff, Clara L.;
- Lynch, Elly;
- Keogh, Louise;
- Halliday, Jane;
- Goranitis, Ilias;
- Downie, Lilian;
- Brown, Natasha J.;
- Amor, David;
- Macciocca, Ivan;
- Jarmolowicz, Anna;
- Lunke, Sebastian;
- Cunningham, Fiona;
- James, Paul A.;
- Trainer, Alison H.;
- Walsh, Maie;
- Winship, Ingrid;
- Bogwitz, Michael
Publication type:
Article
Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.
Published in:
Journal of Pathology, 2017, v. 242, n. 3, p. 273, doi. 10.1002/path.4900
By:
- Flynn, Aidan;
- Dwight, Trisha;
- Benn, Diana;
- Deb, Siddhartha;
- Colebatch, Andrew J;
- Fox, Stephen;
- Harris, Jessica;
- Duncan, Emma L;
- Robinson, Bruce;
- Hogg, Annette;
- Ellul, Jason;
- To, Henry;
- Duong, Cuong;
- Miller, Julie A;
- Yates, Christopher;
- James, Paul;
- Trainer, Alison;
- Gill, Anthony J;
- Clifton‐Bligh, Roderick;
- Hicks, Rodney J
Publication type:
Article
The genomic landscape of phaeochromocytoma.
Published in:
Journal of Pathology, 2015, v. 236, n. 1, p. 78, doi. 10.1002/path.4503
By:
- Flynn, Aidan;
- Benn, Diana;
- Clifton‐Bligh, Roderick;
- Robinson, Bruce;
- Trainer, Alison H;
- James, Paul;
- Hogg, Annette;
- Waldeck, Kelly;
- George, Joshy;
- Li, Jason;
- Fox, Stephen B;
- Gill, Anthony J;
- McArthur, Grant;
- Hicks, Rodney J;
- Tothill, Richard W
Publication type:
Article
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1182, doi. 10.1038/ng.2417
By:
- Orr, Nick;
- Lemnrau, Alina;
- Cooke, Rosie;
- Fletcher, Olivia;
- Tomczyk, Katarzyna;
- Jones, Michael;
- Johnson, Nichola;
- Lord, Christopher J;
- Mitsopoulos, Costas;
- Zvelebil, Marketa;
- McDade, Simon S;
- Buck, Gemma;
- Blancher, Christine;
- Trainer, Alison H;
- James, Paul A;
- Bojesen, Stig E;
- Bokmand, Susanne;
- Nevanlinna, Heli;
- Mattson, Johanna;
- Friedman, Eitan
Publication type:
Article
Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma.
Published in:
2016
By:
- Flynn, Aidan;
- Dwight, Trisha;
- Harris, Jessica;
- Benn, Diana;
- Zhou, Li;
- Hogg, Annette;
- Catchpoole, Daniel;
- James, Paul;
- Duncan, Emma L;
- Trainer, Alison;
- Gill, Anthony J;
- Clifton-Bligh, Roderick;
- Hicks, Rodney J;
- Tothill, Richard W
Publication type:
journal article
Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei.
Published in:
2020
By:
- Lung, Mei Sim;
- Mitchell, Catherine A.;
- Doyle, Maria A.;
- Lynch, Andrew C.;
- Gorringe, Kylie L.;
- Bowtell, David D. L.;
- Campbell, Ian G.;
- Trainer, Alison H.;
- Australian Ovarian Cancer Study Group
Publication type:
journal article
Reevaluation of the BRCA2 truncating allele c.9976A >T (p.Lys3326Ter) in a familial breast cancer context.
Published in:
Scientific Reports, 2015, p. 1, doi. 10.1038/srep14800
By:
- Thompson, Ella R.;
- Gorringe, Kylie L.;
- Rowley, Simone M.;
- Na Li;
- McInerny, Simone;
- Wong-Brown, Michelle W.;
- Devereux, Lisa;
- Li, Jason;
- Trainer, Alison H.;
- Mitchell, Gillian;
- Scott, Rodney J.;
- James, Paul A.;
- Campbell, Ian G.
Publication type:
Article
Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054772
By:
- Thompson, Ella R.;
- Rowley, Simone M.;
- Sawyer, Sarah;
- kConFab;
- Eccles, Diana M.;
- Trainer, Alison H.;
- Mitchell, Gillian;
- James, Paul A.;
- Campbell, Ian G.
Publication type:
Article
Insights into sudden cardiac death: exploring the potential relevance of non-diagnostic autopsy findings.
Published in:
European Heart Journal, 2019, v. 40, n. 10, p. 831, doi. 10.1093/eurheartj/ehy654
By:
- Raju, Hariharan;
- Parsons, Sarah;
- Thompson, Tina N;
- Morgan, Natalie;
- Zentner, Dominica;
- Trainer, Alison H;
- James, Paul A;
- Winship, Ingrid M;
- Kalman, Jonathan M;
- Vohra, Jitendra
Publication type:
Article
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Published in:
NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00279-9
By:
- Li, Na;
- Lim, Belle W. X.;
- Thompson, Ella R.;
- McInerny, Simone;
- Zethoven, Magnus;
- Cheasley, Dane;
- Rowley, Simone M.;
- Wong-Brown, Michelle W.;
- Devereux, Lisa;
- Gorringe, Kylie L.;
- Sloan, Erica K.;
- Trainer, Alison;
- Scott, Rodney J.;
- James, Paul A.;
- Campbell, Ian G.
Publication type:
Article
Changing landscape of hereditary breast and ovarian cancer germline genetic testing in Australia.
Published in:
Internal Medicine Journal, 2018, v. 48, n. 10, p. 1269, doi. 10.1111/imj.14058
By:
- Petelin, Lara;
- James, Paul A.;
- Trainer, Alison H.
Publication type:
Article
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
Published in:
Internal Medicine Journal, 2017, v. 47, n. 6, p. 664, doi. 10.1111/imj.13429
By:
- Huq, Aamira J.;
- Bogwitz, Michael;
- Gorelik, Alexandra;
- Winship, Ingrid M.;
- White, Susan M.;
- Trainer, Alison H.
Publication type:
Article
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Published in:
2018
By:
- Li, Na;
- Rowley, Simone M.;
- Thompson, Ella R.;
- McInerny, Simone;
- Devereux, Lisa;
- Amarasinghe, Kaushalya C.;
- Zethoven, Magnus;
- Lupat, Richard;
- Goode, David;
- Li, Jason;
- Trainer, Alison H.;
- Gorringe, Kylie L.;
- James, Paul A.;
- Campbell, Ian G.
Publication type:
journal article
Reevaluation of RINT1 as a breast cancer predisposition gene.
Published in:
2016
By:
- Li, Na;
- Thompson, Ella;
- Rowley, Simone;
- McInerny, Simone;
- Devereux, Lisa;
- Goode, David;
- Investigators, LifePool;
- Wong-Brown, Michelle;
- Scott, Rodney;
- Trainer, Alison;
- Gorringe, Kylie;
- James, Paul;
- Campbell, Ian
Publication type:
Report
iPrevent: a tailored, web-based, decision support tool for breast cancer risk assessment and management.
Published in:
Breast Cancer Research & Treatment, 2016, v. 156, n. 1, p. 171, doi. 10.1007/s10549-016-3726-y
By:
- Collins, Ian;
- Bickerstaffe, Adrian;
- Ranaweera, Thilina;
- Maddumarachchi, Sanjaya;
- Keogh, Louise;
- Emery, Jon;
- Mann, G.;
- Butow, Phyllis;
- Weideman, Prue;
- Steel, Emma;
- Trainer, Alison;
- Bressel, Mathias;
- Hopper, John;
- Cuzick, Jack;
- Antoniou, Antonis;
- Phillips, Kelly-Anne
Publication type:
Article
Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome.
Published in:
Acta Dermato-Venereologica, 2011, v. 91, n. 3, p. 267, doi. 10.2340/00015555-1063
By:
- Techanukul, Tanasit;
- Sethuraman, Gomathy;
- Zlotogorski, Abraham;
- Horev, Liran;
- Macarov, Michal;
- Trainer, Alison;
- Fong, Kenneth;
- Lens, Marko;
- Medenica, Ljiljana;
- Ramesh, Venkatesh;
- McGrath, John A.;
- Lai-Cheong, Joey E.
Publication type:
Article
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Published in:
Breast Cancer Research, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13058-015-0627-7
By:
- Thompson, Ella R.;
- Gorringe, Kylie L.;
- Rowley, Simone M.;
- Wong-Brown, Michelle W.;
- McInerny, Simone;
- Na Li;
- Trainer, Alison H.;
- Devereux, Lisa;
- Doyle, Maria A.;
- Li, Jason;
- Lupat, Richard;
- Delatycki, Martin B.;
- Mitchell, Gillian;
- James, Paul A.;
- Scott, Rodney J.;
- Campbell, Ian G.
Publication type:
Article
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Published in:
2013
By:
- Southey, Melissa C;
- Park, Daniel J;
- Nguyen-Dumont, Tu;
- Campbell, Ian;
- Thompson, Ella;
- Trainer, Alison H;
- Chenevix-Trench, Georgia;
- Simard, Jacques;
- Dumont, Martine;
- Soucy, Penny;
- Thomassen, Mads;
- Jønson, Lars;
- Pedersen, Inge S;
- Hansen, Thomas Vo;
- Nevanlinna, Heli;
- Khan, Sofia;
- Sinilnikova, Olga;
- Mazoyer, Sylvie;
- Lesueur, Fabienne;
- Damiola, Francesca
Publication type:
Letter
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
Published in:
2020
By:
- Ramchand, Jay;
- Wallis, Mathew;
- Macciocca, Ivan;
- Lynch, Elly;
- Farouque, Omar;
- Martyn, Melissa;
- Phelan, Dean;
- Chong, Belinda;
- Lockwood, Siobhan;
- Weintraub, Robert;
- Thompson, Tina;
- Trainer, Alison;
- Zentner, Dominica;
- Vohra, Jitendra;
- Chetrit, Michael;
- Hare, David L.;
- James, Paul
Publication type:
journal article
Cell Biology Assessment of Glucokinase Mutations V62M and G72R in Pancreatic β-Cells.
Published in:
Diabetes, 2007, v. 56, n. 7, p. 1773, doi. 10.2337/db06-1151
By:
- Arden, Catherine;
- Trainer, Alison;
- de la Iglesia, Nuria;
- Scougall, Kathleen T.;
- Gloyn, Anna L.;
- Lange, Alex J.;
- Shaw, James A. M.;
- Matschinsky, Franz M.;
- Agius, Loranne
Publication type:
Article
Ethical and practical implications of returning genetic research results: two Australian case studies.
Published in:
Medical Journal of Australia, 2021, v. 214, n. 6, p. 259, doi. 10.5694/mja2.50842
By:
- Tiller, Jane;
- Trainer, Alison H;
- Campbell, Ian;
- Lacaze, Paul A
Publication type:
Article
The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome.
Published in:
2020
By:
- Kang, Yoon‐Jung;
- Killen, James;
- Caruana, Michael;
- Simms, Kate;
- Taylor, Natalie;
- Frayling, Ian M;
- Snowsill, Tristan;
- Huxley, Nicola;
- Coupe, Veerle MH;
- Hughes, Suzanne;
- Freeman, Victoria;
- Boussioutas, Alex;
- Trainer, Alison H;
- Ward, Robyn L;
- Mitchell, Gillian;
- Macrae, Finlay A;
- Canfell, Karen;
- Kang, Yoon-Jung
Publication type:
journal article
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
Published in:
2015
By:
- Zentner, Dominica;
- Thompson, Tina N.;
- James, Paul A.;
- Trainer, Alison;
- Adès, Lesley C.;
- Macciocca, Ivan;
- Taylor, Jessica A.;
- Mann, Kirsty;
- Bogwitz, Michael;
- Lewis, Nigel;
- Morgan, Natalie;
- Vohra, Jitendra;
- Winship, Ingrid
Publication type:
journal article
A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
Published in:
Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 6, p. 1539, doi. 10.1007/s10815-021-02144-x
By:
- Verma, Kunal P.;
- Thompson, Bryony;
- Wolfe, James;
- Price, Sarah;
- Djukiadmodjo, Frida;
- Trainer, Alison
Publication type:
Article
Exploring clinicians' attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer.
Published in:
Familial Cancer, 2017, v. 16, n. 1, p. 99, doi. 10.1007/s10689-016-9933-1
By:
- Chen, Yanni;
- Peate, Michelle;
- Kaur, Rajneesh;
- Meiser, Bettina;
- Wong, Tim;
- Kirk, Judy;
- Ward, Robyn;
- Goodwin, Annabel;
- Macrae, Finlay;
- Hiller, Janet;
- Trainer, Alison;
- Mitchell, Gillian
Publication type:
Article
The incidence of <i>PALB2</i> c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.
Published in:
2013
By:
- Teo, Zhi L.;
- Sawyer, Sarah D.;
- James, Paul A.;
- Mitchell, Gillian;
- Trainer, Alison H.;
- Lindeman, Geoffrey J.;
- Shackleton, Kylie;
- Cicciarelli, Linda;
- Southey, Melissa C.
Publication type:
Letter
Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome.
Published in:
2021
By:
- Petelin, Lara;
- Trainer, Alison H.
Publication type:
Opinion
Case Report: Hypoglycemia Due to a Novel Activating Glucokinase Variant in an Adult – a Molecular Approach.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.842937
By:
- Koneshamoorthy, Anojian;
- Seniveratne-Epa, Dilan;
- Calder, Genevieve;
- Sawyer, Matthew;
- Kay, Thomas W. H.;
- Farrell, Stephen;
- Loudovaris, Thomas;
- Mariana, Lina;
- McCarthy, Davis;
- Lyu, Ruqian;
- Liu, Xin;
- Thorn, Peter;
- Tong, Jason;
- Chin, Lit Kim;
- Zacharin, Margaret;
- Trainer, Alison;
- Taylor, Shelby;
- MacIsaac, Richard J.;
- Sachithanandan, Nirupa;
- Thomas, Helen E.
Publication type:
Article
The Experience of Extended Bowel Resection in Individuals With a High Metachronous Colorectal Cancer Risk: A Qualitative Study.
Published in:
Oncology Nursing Forum, 2016, v. 43, n. 4, p. 444, doi. 10.1188/16.ONF.444-452
By:
- Steel, Emma J.;
- Trainer, Alison H.;
- Heriot, Alexander G.;
- Lynch, Craig;
- Parry, Susan;
- Win, Aung K.;
- Keogh, Louise A.
Publication type:
Article
Communication and Information Needs of Women Diagnosed With Ovarian Cancer Regarding Treatment-Focused Genetic Testing.
Published in:
Oncology Nursing Forum, 2013, v. 40, n. 3, p. 275, doi. 10.1188/13.ONF.40-03AP
By:
- Gleeson, Margaret;
- Meiser, Bettina;
- Barlow-Stewart, Kristine;
- Trainer, Alison H.;
- Tucker, Kathy;
- Watts, Kaaren J.;
- Friedlander, Michael;
- Kasparian, Nadine
Publication type:
Article
The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma.
Published in:
2019
By:
- Kong, Grace;
- Schenberg, Tess;
- Yates, Christopher J;
- Trainer, Alison;
- Sachithanandan, Nirupa;
- Iravani, Amir;
- Ravi Kumar, Aravind;
- Hofman, Michael S;
- Akhurst, Tim;
- Michael, Michael;
- Hicks, Rodney J
Publication type:
journal article
Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles.
Published in:
PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002894
By:
- Thompson, Ella R.;
- Doyle, Maria A.;
- Ryland, Georgina L.;
- Rowley, Simone M.;
- Choong, David Y. H.;
- Tothill, Richard W.;
- Thorne, Heather;
- Barnes, Daniel R.;
- Li, Jason;
- Ellul, Jason;
- Philip, Gayle K.;
- Antill, Yoland C.;
- James, Paul A.;
- Trainer, Alison H.;
- Mitchell, Gillian;
- Campbell, Ian G.
Publication type:
Article
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 95, doi. 10.1002/humu.21625
By:
- Thompson, Ella R.;
- Boyle, Samantha E.;
- Johnson, Julie;
- Ryland, Georgina L.;
- Sawyer, Sarah;
- Choong, David Y.H.;
- kConFab;
- Chenevix-Trench, Georgia;
- Trainer, Alison H.;
- Lindeman, Geoffrey J.;
- Mitchell, Gillian;
- James, Paul A.;
- Campbell, Ian G.
Publication type:
Article
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116
By:
- Gordillo, Miriam;
- Vega, Hugo;
- Trainer, Alison H.;
- Hou, Fajian;
- Sakai, Norio;
- Luque, Ricardo;
- Kayserili, Hülya;
- Basaran, Seher;
- Skovby, Flemming;
- Hennekam, Raoul C. M.;
- Uzielli, Maria L. Giovannucci;
- Schnur, Rhonda E.;
- Manouvrier, Sylvie;
- Chang, Susan;
- Blair, Edward;
- Hurst, Jane A.;
- Forzano, Francesca;
- Meins, Moritz;
- Simola, Kalle O.J.;
- Raas-Rothschild, Annick
Publication type:
Article
Transitioning to routine breast cancer risk assessment and management in primary care: what can we learn from cardiovascular disease?
Published in:
Australian Journal of Primary Health, 2016, v. 22, n. 3, p. 255, doi. 10.1071/PY14156
By:
- Phillips, Kelly-Anne;
- Steel, Emma J.;
- Collins, Ian;
- Emery, Jon;
- Pirotta, Marie;
- Mann, G. Bruce;
- Butow, Phyllis;
- Hopper, John L.;
- Trainer, Alison;
- Moreton, Jane;
- Antoniou, Antonis C.;
- Cuzick, Jack;
- Keogh, Louise
Publication type:
Article
Common Susceptibility Loci for Male Breast Cancer.
Published in:
2021
By:
- Maguire, Sarah;
- Perraki, Eleni;
- Tomczyk, Katarzyna;
- Jones, Michael E;
- Fletcher, Olivia;
- Pugh, Matthew;
- Winter, Timothy;
- Thompson, Kyle;
- Cooke, Rosie;
- Consortium, kConFab;
- Trainer, Alison;
- James, Paul;
- Bojesen, Stig;
- Flyger, Henrik;
- Nevanlinna, Heli;
- Mattson, Johanna;
- Friedman, Eitan;
- Laitman, Yael;
- Palli, Domenico;
- Masala, Giovanna
Publication type:
journal article
Gene Delivery to the Epidermis.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 10, p. 1761, doi. 10.1093/hmg/6.10.1761
By:
- Trainer, Alison H.;
- Alexander, M. Yvonne
Publication type:
Article
Aligning organisational priorities and implementation science for cancer research.
Published in:
BMC Health Services Research, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12913-024-10801-x
By:
- Best, Stephanie;
- Thursky, Karin;
- Buzza, Mark;
- Klaic, Marlena;
- Peters, Sanne;
- Guccione, Lisa;
- Trainer, Alison;
- Francis, Jillian
Publication type:
Article

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