Poster Presentation GENEMAPPERS 2024

A genetic test for skin cancer  identifies ultra-high risk transplant patients suitable for early personalised chemoprevention. (#103)

Mathias Seviiri 1 2 3 , Nirmala Pandeya 1 , Kiarash Khosrotehrani 2 , Matthew H Law 1 2 3 , Daniel Chambers 2 4 , David C Whiteman 1 2 , MacGregor Stuart 1 2
  1. QIMR Berghofer Medical Research Institute, Herston, QUEENSLAND, Australia
  2. Faculty of Medicine, Queensland University of Technology, Brisbane, QLD, Australia
  3. Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia
  4. Prince Charles Hospital, Brisbane, QLD, Australia

Background

Transplant patients are at extreme risk of multiple invasive skin cancers. Chemopreventive medication can reduce this risk by ~50%, but clinicians are unable to identify high-risk patients before cancer onset.

Objective: To assess the efficacy of a genetic test  for skin cancer to identify ultra-high risk transplant patients who might benefit from chemoprevention or develop skin cancers with poor prognostic features.

Methods: We developed a polygenic risk test for skin cancer using data from 1.2 million people, and applied it to a cohort of transplant patients (STAR n=357) to assess whether it could predict ultra-high risk individuals suitable for chemoprevention.

Results

In the STAR cohort, higher genetic risk patients were more likely to: develop skin cancer (OR=2.04, 95%CI=1.54-2.71, P=8.72e-07), be treated with cancer-preventive medication (e.g. acitretin: OR=2.55, 95%CI=1.31 - 4.95, P=5.62e-03), have skin cancers with poor prognostic features, have poorly differentiated tumours (OR=2.29, 95%CI=1.39-3.77, P=1.18e-03), have tumours with unclear margins (OR=2.09, 95%CI =1.03-4.25, P=0.041), have large tumours >2cm (OR=4.09,95%CI=1.88-8.90, P=3.92e-04), and have highly invasive disease (OR=1.95, 95%CI=1.18-3.23, P=9.06e-03). We are now conducting a comparative analysis in a large cohort (QSkin) of non-transplantees.

Conclusion

Our genetic test for skin cancer has the potential to identify ultra-high risk transplant patients who should be prioritised by clinicians for personalised early chemoprevention.