Alison Trainer

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H Trainer, Katherine M Tucker, Gillian Mitchell, Paul A James, Robyn L Ward, Helen Mar Fan, et al.

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the ..

Ethical and practical implications of returning genetic research results: two Australian case studies

Jane Tiller, Alison H Trainer, Ian Campbell, Paul A Lacaze

Journal article  |  2020  |  The Medical Journal of Australia

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

Iris Kramer, Maartje J Hooning, Nasim Mavaddat, Michael Hauptmann, Renske Keeman, Ewout W Steyerberg, Daniele Giardiello, Antonis C Antoniou, Paul DP Pharoah, Sander Canisius, Zumuruda Abu-Ful, Irene L Andrulis, Hoda Anton-Culver, Kristan J Aronson, Annelie Augustinsson, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, et al.

Journal article  |  2020  |  American Journal of Human Genetics

Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing ..

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathleen Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily J See, Andrew Talbot, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidne..

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..

Common susceptibility loci for male breast cancer.

Sarah Maguire, Eleni Perraki, Katarzyna Tomczyk, Michael E Jones, Olivia Fletcher, Matthew Pugh, Timothy Winter, Kyle Thompson, Rosie Cooke, undefined kConFab Consortium, Alison Trainer, Paul James, Stig Bojesen, Henrik Flyger, Heli Nevanlinna, Johanna Mattson, Eitan Friedman, Yael Laitman, Domenico Palli, Giovanna Masala, et al.

Journal article  |  2020  |  Journal of the National Cancer Institute

BACKGROUND: The aetiology of male breast cancer (MBC) is poorly understood. In particular, the extent to which the genetic basis o..

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic 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..

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..