Alison Trainer

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George AR Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis, Banu K Arun, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Sami Belhadj, Lieke Berger, Marinus J Blok, Susanne E Boonen, Julika Borde, Angela R Bradbury, et al.

Journal article  |  2022  |  Commun Biol

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA..

The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome

Yoon-Jung Kang, Michael Caruana, Kirstie McLoughlin, James Killen, Kate Simms, Natalie Taylor, Ian M Frayling, Veerle MH Coupe, Alex Boussioutas, Alison H Trainer, Robyn L Ward, Finlay Macrae, Karen Canfell

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Lynch syndrome-related colorectal cancer (CRC) risk substantially varies by mismatch repair (MMR) gene. We evaluated the ..

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study

Laura E Forrest, Rowan Forbes Shepherd, Erin Tutty, Angela Pearce, Ian Campbell, Lisa Devereux, Alison H Trainer, Paul A James, Mary-Anne Young

Journal article  |  2022  |  JOURNAL OF PERSONALIZED MEDICINE

Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic info..

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.

Maie Walsh, Kirsty West, Jessica A Taylor, Bryony A Thompson, Adelaide Hopkins, Adrienne Sexton, Abiramy Ragunathan, Kunal P Verma, Julie Panetta, Ebony Matotek, Michael C Fahey, Michael Christie, Ingrid M Winship, Alison H Trainer, Paul A James

Journal article  |  2022  |  Genet Med

PURPOSE: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across vari..

Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study

Jane M Tiller, Nicole E Cousens, Rajneesh Kaur, Simone Rowley, Yi-An Ko, Sakshi Mahale, Agnes Bankier, Bettina Meiser, Kristine Barlow-Stewart, Leslie Burnett, Chris Jacobs, Paul James, Alison Trainer, Suzanne Neil, Ian G Campbell, Lesley Andrews, Martin Delatycki

Journal article  |  2022  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: Ashkenazi Jewish (AJ) people have a higher incidence of BRCA1/2 pathogenic variants (PVs) than unselected populations...

Case Report: Hypoglycemia Due to a Novel Activating Glucokinase Variant in an Adult - a Molecular Approach

Anojian Koneshamoorthy, Dilan Seniveratne-Epa, Genevieve Calder, Matthew Sawyer, Thomas WH Kay, Stephen Farrell, Thomas Loudovaris, Lina Mariana, Davis McCarthy, Ruqian Lyu, Xin Liu, Peter Thorn, Jason Tong, Lit Kim Chin, Margaret Zacharin, Alison Trainer, Shelby Taylor, Richard J MacIsaac, Nirupa Sachithanandan, Helen E Thomas, et al.

Journal article  |  2022  |  FRONTIERS IN ENDOCRINOLOGY

We present a case of an obese 22-year-old man with activating GCK variant who had neonatal hypoglycemia, re-emerging with hypoglyc..

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

Heterogeneity in how women value risk-stratified breast screening

Jack CW Wheeler, Louise Keogh, Maria A Sierra, Lisa Devereux, Katherine Jones, Maarten J IJzerman, Alison H Trainer

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Risk-stratified screening has potential to improve the cost effectiveness of national breast cancer screening programs. T..

Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study

Rowan Forbes Shepherd, Laura E Forrest, Erin Tutty, Angela Pearce, Lisa Devereux, Paul A James, Ian G Campbell, Alison Trainer, Mary-Anne Young

Journal article  |  2021  |  GENETIC TESTING AND MOLECULAR BIOMARKERS

Background: Although there is growing consensus that clinically actionable genetic research results should be returned to particip..

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  |  2021  |  JOURNAL OF MEDICAL GENETICS

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