National Precision Health Research Translation for Breast and Prostate Cancer Prevention and Early Detection.

Systematic review of preferences for additional findings from genomic testing

D Sheen, A Willis, Z Fehlberg, M Southey, I Goranitis, MA Young

2026-01-01

The increasing use of genomic testing in clinical and research contexts raises how best to manage additional findings (AFs). This ..

Views of genetic health professionals, patients, and next of kin on retesting and recontact with results from updated genetic testing

AL Young, C Speechly, A Morrow, K Ross, C Murphy, N Poplawski, L Andrews, R Harris, J Kirk, K Tucker, C Jacobs, T Nguyen-Dumont, MC Southey, AM Willis

2025-12-01

Retesting individuals who previously had uninformative BRCA1/2 genetic testing can identify new clinically actionable information...

Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer

Z Fehlberg, L Fisher, C Liu, N Kugenthiran, RL Milne, MA Young, A Willis, MC Southey, I Goranitis, S Best

2025-01-01

As the possibility of implementing population genomic screening programs for the risk of developing hereditary cancers in health s..

SAM-DNMT3A, a strategy for induction of genome-wide DNA methylation, identifies DNA methylation as a vulnerability in ER-positive breast cancers

M Hosseinpour, X Xi, L Liu, L Malaver-Ortega, L Perlaza-Jimenez, JE Joo, HM York, J Beesley, CE Caldon, PA Dugué, JG Dowty, S Arumugam, MC Southey, J Rosenbluh

2024-12-01

DNA methylation is an epigenetic mark that plays a critical role in regulating gene expression. DNA methyltransferase (DNMT) inhib..

Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?

P Harraka, F Bruinsma, T Nguyen-Dumont, S Jordan, GG Giles, IM Winship, K Tucker, MC Southey

2024-09-24

Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma

F Bruinsma, P Harraka, S Jordan, DJ Park, B Pope, J Steen, RL Milne, GG Giles, I Winship, KM Tucker, MC Southey, T Nguyen-Dumont

2024-09-01

Renal cell carcinoma (RCC) has been associated with germline pathogenic or likely pathogenic (PLP) variants in recognised cancer s..