Alison Trainer

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers ofBRCA1andBRCA2pathogenic variants

Daniel R Barnes, Matti A Rookus, Lesley McGuffog, Goska Leslie, Thea M Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomaki, Nadine Andrieu, Irene L Andrulis, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Judith Balmana, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian c..

Impact of direct-to-consumer genetic testing on Australian clinical genetics services.

Michael Millward, Jane Tiller, Michael Bogwitz, Helen Kincaid, Shelby Taylor, Alison H Trainer, Paul Lacaze

Journal article  |  2020  |  European Journal of Medical Genetics

The increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic ser..

Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

B Meiser, R Kaur, J Kirk, A Morrow, M Peate, WKT Wong, E McPike, E Cops, C Dowson, R Austin, M Fine, L Thrupp, R Ward, F Macrae, JE Hiller, AH Trainer, G Mitchell

Journal article  |  2020  |  Familial Cancer

INTRODUCTION: This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians' recomm..

Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

Mei Sim Lung, Catherine A Mitchell, Maria A Doyle, Andrew C Lynch, Kylie L Gorringe, David DL Bowtell, Ian G Campbell, Alison H Trainer

Journal article  |  2020  |  BMC Cancer

BACKGROUND: Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertai..

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M Dunning, James Redman, James Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen Pooley, Leila Dorling, Andrew Lee, Muriel A Adank, Julian Adlard, Kristiina Aittomaki, Irene L Andrulis, Peter Ang, et al.

Journal article  |  2020  |  Journal of Clinical Oncology

PURPOSE: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic..

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A Agnarsson, Munaza Ahmed, Kristiina Aittomaki, Elisa Alducci, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Grazia Artioli, Brita Arver, Bernd Auber, Jacopo Azzollini, Judith Balmana, et al.

Journal article  |  2020  |  Cancer Research

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer...

The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome

Yoon-Jung Kang, James Killen, Michael Caruana, Kate Simms, Natalie Taylor, Ian M Frayling, Tristan Snowsill, Nicola Huxley, Veerle MH Coupe, Suzanne Hughes, Victoria Freeman, Alex Boussioutas, Alison H Trainer, Robyn L Ward, Gillian Mitchell, Finlay A Macrae, Karen Canfell

Journal article  |  2020  |  Medical Journal of Australia

Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers

Lara Petelin, Lucinda Hossack, Mary Shanahan, Gillian Mitchell, Danny Liew, Paul A James, Alison H Trainer

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Women who inherit a BRCA1 or BRCA2 pathogenic variant are at high risk of developing breast and ovarian cancer. Evidence ..

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L Hare, Paul James

Journal article  |  2020  |  Journal of the American Heart Association

Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencin..

Severe chemotherapy toxicity in a 10-year-old with T-acute lymphoblastic lymphoma harboring biallelic FANCM variants

Georgina L Ryland, Lucy C Fox, Virginia Wootton, Ella R Thompson, Jennifer Lickiss, Alison H Trainer, Paddy Barbaro, Morag Whyte, David Ritchie, Piers Blombery

Journal article  |  2020  |  Leukemia & Lymphoma

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R Barnes, Jamie Allen, Siddhartha Kar, Karen A Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, Penny Soucy, Audrey Lemacon, Michael Lush, Jonathan P Tyrer, Maya Ghoussaini, Mahdi Moradi Marjaneh, Xia Jiang, Simona Agata, Kristiina Aittomaki, M Rosario Alonso, et al.

Journal article  |  2020  |  Nature Genetics

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underl..

What information do healthcare professionals need to inform premenopausal women about risk-reducing salpingo-oophorectomy?

Martha Hickey, Ines Rio, Alison Trainer, Jennifer L Marino, C David Wrede, Michelle Peate

Journal article  |  2020  |  Menopause

OBJECTIVE: The aim of this study was to identify the unmet information needs of healthcare professionals managing risk-reducing bi..

Exploring factors that impact uptake of risk-reducing bilateral salpingo-oophorectomy (RRBSO) in high-risk women

Martha Hickey, Ines Rio, Alison Trainer, Jennifer L Marino, C David Wrede, Michelle Peate

Journal article  |  2020  |  Menopause

OBJECTIVE: Only risk-reducing bilateral salpingo-oophorectomy (RRBSO) has been shown to reduce ovarian cancer deaths in high-risk ..

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

Max Catchpool, Jay Ramchand, Melissa Martyn, David L Hare, Paul A James, Alison H Trainer, Josh Knight, Illias Goranitis

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated c..

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Manon Suerink, Mar Rodriguez-Girondo, Heleen M van der Klift, Chrystelle Colas, Laurence Brugieres, Noemie Lavoine, Marjolijn Jongmans, Gabriel Capella Munar, D Gareth Evans, Michael P Farrell, Maurizio Genuardi, Yael Goldberg, Encarna Gomez-Garcia, Karl Heinimann, Jessica Hoell, Stefan Aretz, Kory W Jasperson, Inbal Kedar, Mitul B Modi, Sergey Nikolaev, et al.

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndro..

Development and validation of a targeted gene sequencing panel for application to disparate cancers

Mark J McCabe, Marie-Emilie A Gauthier, Chia-Ling Chan, Tanya J Thompson, Sunita MC De Sousa, Clare Puttick, John P Grady, Velimir Gayevskiy, Jiang Tao, Kevin Ying, Arcadi Cipponi, Niantao Deng, Alex Swarbrick, Melissa L Thomas, undefined kConFab, Reginald V Lord, Amber L Johns, Maija Kohonen-Corish, Sandra A O'Toole, Jonathan Clark, et al.

Journal article  |  2019  |  Scientific Reports

Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology ..

The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma

Grace Kong, Tess Schenberg, Christopher J Yates, Alison Trainer, Nirupa Sachithanandan, Amir Iravani, Aravind Ravi Kumar, Michael S Hofman, Tim Akhurst, Michael Michael, Rodney J Hicks

Journal article  |  2019  |  The Journal of Clinical Endocrinology & Metabolism

Purpose: Germline succinate dehydrogenase (SDHx) mutation carriers, especially SDHB, are at increased risk for malignancy and requ..

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna Kiiski, Taru A Muranen, Daniel R Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K Bolla, Goska Leslie, Cora M Aalfs, Muriel A Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A Agnarsson, Thomas Ahearn, et al.

Journal article  |  2019  |  npj Breast Cancer

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1..

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadalo, Cora M Aalfs, Simona Agata, Kristiina Aittomaki, Elisa Alducci, Maria Concepcion Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmana, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Bluemcke, et al.

Journal article  |  2019  |  Human Mutation

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for mu..

Homologous recombination DNA repair defects in PALB2-associated breast cancers

Anqi Li, Felipe C Geyer, Pedro Blecua, Ju Youn Lee, Pier Selenica, David N Brown, Fresia Pareja, Simon SK Lee, Rahul Kumar, Barbara Rivera, Rui Bi, Salvatore Piscuoglio, Hannah Y Wen, John R Lozada, Rodrigo Gularte-Merida, Luca Cavallone, Zoulikha Rezoug, Tu Nguyen-Dumont, Paolo Peterlongo, Carlo Tondini, et al.

Journal article  |  2019  |  npj Breast Cancer

A Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre

Lara Petelin, Lucinda Hossack, Gillian Mitchell, Danny Liew, Alison H Trainer, Paul A James

Journal article  |  2019  |  Value in Health

Patient perspectives after genomic sequencing testing in clinical care

M Martyn, A Kanga-Parabia, L Keogh, A Trainer, CL Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A novel approach for offering additional findings to patients - separating the decision from diagnostic testing

EL Lynch, M Martyn, A Kanga-Parabia, P James, S Lunke, I Macciocca, M Wallis, MF Hunter, A Trainer, J Halliday, N Brown, L Keogh, J Wale, I Winship, C Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

David I Blusztein, Dominica Zentner, Tina Thompson, Pavithra Jayadeva, Danlu Liang, Ray Wang, Ingrid Winship, Paul A James, Alison H Trainer, Jonathan M Kalman, Jitendra Vohra

Journal article  |  2019  |  Heart, Lung and Circulation

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

Simone M Rowley, Lyon Mascarenhas, Lisa Devereux, Na Li, Kaushalya C Amarasinghe, Magnus Zethoven, Jue Er Amanda Lee, Alexandra Lewis, James A Morgan, Sharpe Limb, Mary-Anne Young, Paul A James, Alison H Trainer, Ian G Campbell

Journal article  |  2019  |  Genetics in Medicine

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system

Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Alison H Trainer, Jane Halliday, Louise Keogh, Janney Wale, Ingrid Winship, Michael Bogwitz, Giulia Valente, Maie Walsh, Lilian Downie, David Amor, Mathew Wallis, Fiona Cunningham, Matthew Burgess, Natasha J Brown, Anna Jarmolowicz, et al.

Journal article  |  2019  |  Journal of Genetic Counseling

Insights into sudden cardiac death: exploring the potential relevance of non-diagnostic autopsy findings

Hariharan Raju, Sarah Parsons, Tina N Thompson, Natalie Morgan, Dominica Zentner, Alison H Trainer, Paul A James, Ingrid M Winship, Jonathan M Kalman, Jitendra Vohra

Journal article  |  2019  |  European Heart Journal

Consumer and clinician perspectives on personalising breast cancer prevention information

LA Keogh, E Steel, P Weideman, P Butow, IM Collins, JD Emery, GB Mann, A Bickerstaffe, AH Trainer, LJ Hopper, KA Phillips

Journal article  |  2019  |  The Breast

A Demonstration of the Diagnostic and Clinical Utility of Genomic Sequencing in Primary Immunodeficiency Diseases in Australia

Charlotte Slade, Fiona Moghaddas, Sebastian Lunke, Zornitza Stark, Ingrid Winship, Kirsty West, Alison Trainer, Samar Ojaimi, Matthew Hunter, Yael Prawer, Katherine Nicholls, Mittal Patel, Pricilla Auyeung, Kymble Spriggs, Jeremy McComish, Gary Unglik, Joseph De Luca, Samantha Chan, Giulia Valente, Anna Jarmolowicz, et al.

Conference Proceedings  |  2019  |  JOURNAL OF CLINICAL IMMUNOLOGY

The iPrevent Online Breast Cancer Risk Assessment and Risk Management Tool: Usability and Acceptability Testing.

Louisa L Lo, Ian M Collins, Mathias Bressel, Phyllis Butow, Jon Emery, Louise Keogh, Prue Weideman, Emma Steel, John L Hopper, Alison H Trainer, Gregory B Mann, Adrian Bickerstaffe, Antonis C Antoniou, Jack Cuzick, Kelly-Anne Phillips

Journal article  |  2018  |  JMIR Formative Research

BACKGROUND: iPrevent estimates breast cancer (BC) risk and provides tailored risk management information. OBJECTIVE: The objective..

Bayesian approach to determining penetrance of pathogenic SDH variants

Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, et al.

Journal article  |  2018  |  Journal of Medical Genetics

Population-based testing for hereditary breast and ovarian cancer predisposing mutations in the Australian community

IG Campbell, S Rowley, AH Trainer, M Young, undefined Lifepool, L Devereux, PA James

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The contribution of rare variants, polygenic risk, and novel candidate genes to the hereditary risk of breast cancer in a large cohort of Breast Cancer families

PA James, N Li, S Rowley, D Goode, L Devereux, S McInerny, N Grewal, A Trainer, R Scott, I Campbell

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in RECQL are not associated with breast cancer risk in an Australian population

Na Li, Simone M Rowley, David L Goode, Kaushalya C Amarasinghe, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Richard Lupat, Jue Er Amanda Lee, Siobhan Hughes, Ella R Thompson, Magnus Zethoven, Jason Li, Alison H Trainer, Kylie L Gorringe, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2018  |  Nature Genetics

Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review

Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew, Paul A James

Journal article  |  2018  |  Genetics in Medicine

A theory-informed systematic review of clinicians' genetic testing practices

Jean L Paul, Hanna Leslie, Alison H Trainer, Clara Gaff

Journal article  |  2018  |  European Journal of Human Genetics

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same

AJ Huq, M Walsh, B Rajagopalan, M Finlay, AH Trainer, F Bonnet, N Sevenet, IM Winship

Journal article  |  2018  |  Familial Cancer

Changing landscape of hereditary breast and ovarian cancer germline genetic testing in Australia

Lara Petelin, Paul A James, Alison H Trainer

Journal article  |  2018  |  Internal Medicine Journal

Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments

Lara Petelin, Danny Liew, Gillian Mitchell, Paul A James, Alison H Trainer

Journal article  |  2018  |  Value in Health

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N Weitzel, TL Chan, Fergus J Couch, David E Goldgar, Torben A Kruse, Edenir Inez Palmero, Sue Kyung Park, Diana Torres, Elizabeth J van Rensburg, et al.

Journal article  |  2018  |  Human Mutation

Acceptability and usability of iPrevent, a web-based decision support tool for assessment and management of breast cancer risk

Kelly-Anne Phillips, Louisa Lo, Mathias Bressel, Ian M Collins, Jon Emery, Prue Weideman, Louise Keogh, Emma Steel, Adrian Bickerstaffe, G Bruce Mann, Alison Trainer, John L Hopper, Antonis C Antoniou, Jack Cuzick, Phyllis Butow

Conference Proceedings  |  2018  |  CANCER RESEARCH

A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders

Dominica Zentner, Tina Thompson, Jessica Taylor, Michael Bogwitz, Alison Trainer, Jitendra Vohra, Ingrid Winship, Paul A James

Journal article  |  2018  |  European Journal of Medical Genetics

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2018  |  BREAST CANCER RESEARCH

Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies

Costas K Yannakou, Kate Jones, Georgina L Ryland, Ella R Thompson, Gareth Reid, Michelle McBean, Alison Trainer, David Westerman, Piers Blombery

Journal article  |  2018  |  Journal of Clinical Pathology

What Happens After Menopause? (WHAM): protocol for a prospective, multicentre, age-matched cohort trial of risk-reducing bilateral salpingo-oophorectomy in high-risk premenopausal women

Martha Hickey, Alison Trainer, Sabine Braat, Mary-Ann Davey, Efrosinia Krejany, John Wark

Journal article  |  2017  |  BMJ OPEN

Update on a previously reported male with a FLNA missense mutation

Maie Walsh, Geoffrey Hebbard, Alison Trainer

Journal article  |  2017  |  European Journal of Human Genetics

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours

Aidan Flynn, Trisha Dwight, Diana Benn, Siddhartha Deb, Andrew J Colebatch, Stephen Fox, Jessica Harris, Emma L Duncan, Bruce Robinson, Annette Hogg, Jason Ellul, Henry To, Duong Cuong, Julie A Miller, Christopher Yates, Paul James, Alison Trainer, Anthony J Gill, Roderick Clifton-Bligh, Rodney J Hicks, et al.

Journal article  |  2017  |  The Journal of Pathology

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment

Aamira J Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M Winship, Susan M White, Alison H Trainer

Journal article  |  2017  |  Internal Medicine Journal

Exploring clinicians' attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer

Yanni Chen, Michelle Peate, Rajneesh Kaur, Bettina Meiser, Tim Wong, Judy Kirk, Robyn L Ward, Annabel Goodwin, Finlay Macrae, Janet Hiller, Alison H Trainer, Gillian Mitchell

Journal article  |  2017  |  Familial Cancer

Reevaluation of RINT1 as a breast cancer predisposition gene

Na Li, Ella R Thompson, Simone M Rowley, Simone McInerny, Lisa Devereux, David Goode, Michelle W Wong-Brown, Rodney J Scott, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2016  |  Breast Cancer Research and Treatment

The Genetics of Barrett's Esophagus: A Familial and Population-Based Perspective

Henry To, Nicholas J Clemons, Cuong P Duong, Alison H Trainer, Wayne A Phillips

Journal article  |  2016  |  DIGESTIVE DISEASES AND SCIENCES

The Experience of Extended Bowel Resection in Individuals With a High Metachronous Colorectal Cancer Risk: A Qualitative Study

Emma J Steel, Alison H Trainer, Alexander G Heriot, Craig Lynch, Susan Parry, Aung K Win, Louise A Keogh

Journal article  |  2016  |  ONCOLOGY NURSING FORUM

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care

Ella R Thompson, Simone M Rowley, Na Li, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2016  |  Journal of Clinical Oncology

Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma

Aidan Flynn, Trisha Dwight, Jessica Harris, Diana Benn, Li Zhou, Annette Hogg, Daniel Catchpoole, Paul James, Emma L Duncan, Alison Trainer, Anthony J Gill, Roderick Clifton-Bligh, Rodney J Hicks, Richard W Tothill

Journal article  |  2016  |  The Journal of Clinical Endocrinology & Metabolism

iPrevent (R): a tailored, web-based, decision support tool for breast cancer risk assessment and management

Ian M Collins, Adrian Bickerstaffe, Thilina Ranaweera, Sanjaya Maddumarachchi, Louise Keogh, Jon Emery, G Bruce Mann, Phyllis Butow, Prue Weideman, Emma Steel, Alison Trainer, Mathias Bressel, John L Hopper, Jack Cuzick, Antonis C Antoniou, Kelly-Anne Phillips

Journal article  |  2016  |  BREAST CANCER RESEARCH AND TREATMENT

Transitioning to routine breast cancer risk assessment and management in primary care: what can we learn from cardiovascular disease?

Kelly-Anne Phillips, Emma J Steel, Ian Collins, Jon Emery, Marie Pirotta, G Bruce Mann, Phyllis Butow, John L Hopper, Alison Trainer, Jane Moreton, Antonis C Antoniou, Jack Cuzick, Louise Keogh

Journal article  |  2016  |  Australian Journal of Primary Health

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Na Li, Simone McInerny, Michelle W Wong-Brown, Lisa Devereux, Jason Li, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2015  |  Sci Rep

The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

Dominica Zentner, Tina N Thompson, Paul A James, Alison Trainer, Lesley C Ades, Ivan Macciocca, Jessica A Taylor, Kirsty Mann, Michael Bogwitz, Nigel Lewis, Natalie Morgan, Jitendra Vohra, Ingrid Winship

Journal article  |  2015  |  Medical Journal of Australia

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Michelle W Wong-Brown, Simone McInerny, Na Li, Alison H Trainer, Lisa Devereux, Maria A Doyle, Jason Li, Richard Lupat, Martin B Delatycki, Gillian Mitchell, Paul A James, Rodney J Scott, Ian G Campbell

Journal article  |  2015  |  Breast Cancer Res

Familial colorectal cancer

MS Lung, AH Trainer, I Campbell, L Lipton

Journal article  |  2015  |  Internal Medicine Journal

The genomic landscape of phaeochromocytoma

Aidan Flynn, Diana Benn, Roderick Clifton-Bligh, Bruce Robinson, Alison H Trainer, Paul James, Annette Hogg, Kelly Waldeck, Joshy George, Jason Li, Stephen B Fox, Anthony J Gill, Grant McArthur, Rodney J Hicks, Richard W Tothill

Journal article  |  2015  |  J Pathol

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Kyriaki Michailidou, Jonathan Beesley, Sara Lindstrom, Sander Canisius, Joe Dennis, Michael J Lush, Mel J Maranian, Manjeet K Bolla, Qin Wang, Mitul Shah, Barbara J Perkins, Kamila Czene, Mikael Eriksson, Hatef Darabi, Judith S Brand, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Sune F Nielsen, Nazneen Rahman, et al.

Journal article  |  2015  |  NATURE GENETICS

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Karoline B Kuchenbaecker, Susan J Ramus, Jonathan Tyrer, Andrew Lee, Howard C Shen, Jonathan Beesley, Kate Lawrenson, Lesley McGuffog, Sue Healey, Janet M Lee, Tassja J Spindler, Yvonne G Lin, Tanja Pejovic, Yukie Bean, Qiyuan Li, Simon Coetzee, Dennis Hazelett, Alexander Miron, Melissa Southey, Mary Beth Terry, et al.

Journal article  |  2015  |  Nature Genetics

Assessing and managing breast cancer risk: Clinicians' current practice and future needs

Ian M Collins, Emma Steel, G Bruce Mann, Jon D Emery, Adrian Bickerstaffe, Alison Trainer, Phyllis Butow, Marie Pirotta, Antonis C Antoniou, Jack Cuzick, John Hopper, Kelly-Anne Phillips, Louise A Keogh

Journal article  |  2014  |  The Breast

Spot Diagnosis

Zornitza Stark, Lynda J Campbell, Catherine Mitchell, Paul A James, John A Heath, Alex Boussioutas, Craig Lynch, Alison H Trainer

Journal article  |  2014  |  New England Journal of Medicine

The incidence of PALB2 c.3113G > A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia

Zhi L Teo, Sarah D Sawyer, Paul A James, Gillian Mitchell, Alison H Trainer, Geoffrey J Lindeman, Kylie Shackleton, Linda Cicciarelli, Melissa C Southey

Journal article  |  2013  |  FAMILIAL CANCER

Familial cardiological and targeted genetic evaluation: Low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes

Saurabh Kumar, Stacey Peters, Tina Thompson, Natalie Morgan, Ivan Maccicoca, Alison Trainer, Dominica Zentner, Jonathan M Kalman, Ingrid Winship, Jitendra K Vohra

Journal article  |  2013  |  Heart Rhythm

Tumour morphology predicts PALB2 germline mutation status

ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey, et al.

Journal article  |  2013  |  BRITISH JOURNAL OF CANCER

Communication and Information Needs of Women Diagnosed With Ovarian Cancer Regarding Treatment-Focused Genetic Testing

Margaret Gleeson, Bettina Meiser, Kristine Barlow-Stewart, Alison H Trainer, Kathy Tucker, Kaaren J Watts, Michael Friedlander, Nadine Kasparian

Journal article  |  2013  |  Oncology Nursing Forum

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Ella R Thompson, Simone M Rowley, Sarah Sawyer, Diana M Eccles, Alison H Trainer, Gillian Mitchell, Paul A James, Ian G Campbell

Journal article  |  2013  |  PLOS ONE

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Melissa C Southey, Daniel J Park, Tu Nguyen-Dumont, Ian Campbell, Ella Thompson, Alison H Trainer, Georgia Chenevix-Trench, Jacques Simard, Martine Dumont, Penny Soucy, Mads Thomassen, Lars Jonson, Inge S Pedersen, Thomas VO Hansen, Heli Nevanlinna, Sofia Khan, Olga Sinilnikova, Sylvie Mazoyer, Fabienne Lesueur, Francesca Damiola, et al.

Journal article  |  2013  |  Breast Cancer Research

A Role for Common Genomic Variants in the Assessment of Familial Breast Cancer

Sarah Sawyer, Gillian Mitchell, Joanne McKinley, Georgia Chenevix-Trench, Jonathan Beesley, Xiao Qing Chen, David Bowtell, Alison H Trainer, Marion Harris, Geoffrey J Lindeman, Paul A James

Journal article  |  2012  |  JOURNAL OF CLINICAL ONCOLOGY

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Nick Orr, Alina Lemnrau, Rosie Cooke, Olivia Fletcher, Katarzyna Tomczyk, Michael Jones, Nichola Johnson, Christopher J Lord, Costas Mitsopoulos, Marketa Zvelebil, Simon S McDade, Gemma Buck, Christine Blancher, Alison H Trainer, Paul A James, Stig E Bojesen, Susanne Bokmand, Heli Nevanlinna, Johanna Mattson, Eitan Friedman, et al.

Journal article  |  2012  |  Nature Genetics

Rare variants in XRCC2 as breast cancer susceptibility alleles

Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, et al.

Journal article  |  2012  |  Journal of Medical Genetics

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

Ella R Thompson, Maria A Doyle, Georgina L Ryland, Simone M Rowley, David YH Choong, Richard W Tothill, Heather Thorne, Daniel R Barnes, Jason Li, Jason Ellul, Gayle K Philip, Yoland C Antill, Paul A James, Alison H Trainer, Gillian Mitchell, Ian G Campbell

Journal article  |  2012  |  PLoS Genetics

Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients

Ella R Thompson, Samantha E Boyle, Julie Johnson, Georgina L Ryland, Sarah Sawyer, David YH Choong, Georgia Chenevix-Trench, Alison H Trainer, Geoffrey J Lindeman, Gillian Mitchell, Paul A James, Ian G Campbell

Journal article  |  2012  |  Human Mutation

Breast Conservation Versus Mastectomy in Triple-Negative Breast Cancer: Two Steps Forward, One Step Back?

Alison H Trainer, Paul A James, G Bruce Mann, Geoffrey J Lindeman

Journal article  |  2011  |  Journal of Clinical Oncology

Preoperative Diagnosis of Lynch Syndrome With DNA Mismatch Repair Immunohistochemistry on a Diagnostic Biopsy

SK Warrier, AH Trainer, AC Lynch, C Mitchell, R Hiscock, S Sawyer, A Boussioutas, AG Heriot

Journal article  |  2011  |  Diseases of the Colon and Rectum

BRCA and Beyond: A Genome-first Approach to Familial Breast Cancer Risk Assessment

Alison H Trainer, Ella R Thompson, Paul A James

Journal article  |  2011  |  Discovery medicine

The role of BRCA mutation testing in determining breast cancer therapy

Alison H Trainer, Craig R Lewis, Kathy Tucker, Bettina Meiser, Michael Friedlander, Robyn L Ward

Journal article  |  2010  |  Nature Reviews Clinical Oncology

Moving Toward Personalized Medicine Treatment-Focused Genetic Testing of Women Newly Diagnosed With Ovarian Cancer

Alison H Trainer, Bettina Meiser, Kaaren Watts, Gillian Mitchell, Kathy Tucker, Michael Friedlander

Journal article  |  2010  |  International Journal of Gynecologic Cancer

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

H Vega, AH Trainer, M Gordillo, M Crosier, H Kayserili, F Skovby, ML Giovannucci Uzielli, RE Schnur, S Manouvrier, E Blair, JA Hurst, F Forzano, M Meins, KOJ Simola, A Raas-Rothschild, RCM Hennekam, E Wang Jabs

Journal article  |  2010  |  Journal of Medical Genetics

Hereditary mutations and cancer management

AH Trainer, R Ward

Book Chapter  |  2009

The Warfarin/Aspirin Study in Heart failure (WASH): a randomized trial comparing antithrombotic strategies for patients with heart failure.

JGF Cleland, I Findlay, S Jafri, G Sutton, R Falk, C Bulpitt, C Prentice, I Ford, Adele Trainer, PA Poole-Wilson

Journal article  |  2004  |  American Heart Journal

BACKGROUND: Heart failure is commonly associated with vascular disease and a high rate of athero-thrombotic events, but the risks ..

Molecular tumor profiling: translating genomic insights into clinical advances.

Alison H Trainer

Journal article  |  2004  |  Genome Biology

Molecular profiling of the transcripts or proteins within an individual tumor may in future provide important prognostic and thera..

De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.

S Joss, A Howatson, A Trainer, M Whiteford, DR FitzPatrick

Journal article  |  2003  |  Clinical Genetics

Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2.

H Lee, AH Trainer, LS Friedman, FC Thistlethwaite, MJ Evans, BA Ponder, AR Venkitaraman

Journal article  |  1999  |  Molecular Cell

The murine Brca2 gene encodes a nuclear protein implicated in DNA repair. Brca2 behaves as a tumor suppressor, but paradoxically, ..

Reduced heart rate variability following repair of tetralogy of Fallot.

KA McLeod, WS Hillis, AB Houston, N Wilson, A Trainer, J Neilson, WB Doig

Journal article  |  1999  |  Heart

OBJECTIVE: To examine autonomic function as assessed by heart rate variability in patients 10 or more years after repair of tetral..

Investigation of tissue specific promoters in the correction of ornithine transcarbamylase deficiency in mouse models.

AH Trainer, RJ Akhurst, ME Porteus

Journal article  |  1997  |  AMERICAN JOURNAL OF HUMAN GENETICS

Gene delivery to the epidermis

AH Trainer, MY Alexander

Journal article  |  1997  |  Human Molecular Genetics

The iPrevent Online Breast Cancer Risk Assessment and Risk Management Tool: Usability and Acceptability Testing (Preprint)

Louisa L Lo, Ian M Collins, Mathias Bressel, Phyllis Butow, Jon Emery, Louise Keogh, Prue Weideman, Emma Steel, John L Hopper, Alison H Trainer, Gregory B Mann, Adrian Bickerstaffe, Antonis C Antoniou, Jack Cuzick, Kelly-Anne Phillips

Journal article

BACKGROUND iPrevent estimates breast cancer (BC) risk and provides tailored risk management information. ..