Genetics and Skin Cancer

In the Genetics and Skin Cancer lab, we determine how genetic variation leads to melanoma and basal or squamous cell carcinoma. We then use this information to work out how we can best detect and manage these cancers.

Matthew Law

Associate Professor (Adjunct) Matthew H. Law

Team Head

Genetics and skin cancer - melanoma image

Genetics and Skin Cancer Research Focus

  • We lead large-scale studies of the genetics of skin cancer risk to allow more powerful prediction tools and to identify new drug targets
  • We also target chronically understudied areas, such as the genetics of melanoma survival and treatment response, or identifying genetic risks for rarer subtypes such as uveal (eye) melanoma
  • Determining the utility of skin cancer prediction tools
  • Oversee and support genetic studies within the QSkin Sun and Health Study

Genetics and Skin cancer research projects

Current Genetics and Skin cancer research projects

Q-Inform: A randomised control trial of risk stratified screening advice for melanoma

Matthew H Law

Gene mapping studies for melanoma and its risk factors including mole count

QSkin Sun and Health Study Genetics


Genetics and Skin Cancer team

Huanwei Wang

Huanwei Wang

Shanika Jayasinghe

Shanika Jayasinghe

Maciej Trzaskowski

Maciej Trzaskowski

Marloes Helder


Funding

• 2026 January: Philanthropic donation from Jan Brown and “Buck Off Melanoma” towards melanoma research.

• 2025 November: Philanthropic grant from CIVIC Solutions to support genetic analyses of uveal melanoma. This research will further illuminate the genetic pathways that drive this devastating disease and improve outcomes for patients in the future.

• 2025 July Co-Investigator on an Australian Skin and Skin Cancer Research Centre Early Career Researcher Grant “Using spatial transcriptomics to illuminate the impact of ultraviolet radiation on the skin”.

• 2025 July Co-Investigator on an Australian Skin and Skin Cancer Research Centre Early Career Researcher Grant “Whole exome sequencing individuals with familial hidradenitis suppurativa to ascertain diagnostic yield of known genes, and identify new causal genes”.

• 2025 June CIA on MRFF Genomics Health Futures grant “Q-Inform – does knowledge of genetic risk for skin cancer change behaviour?” MRFF 2045395.

• 2024 August – Co-Investigator on an Australian Skin and Skin Cancer Research Centre Early Career Researcher Grant “Confirming and Further Exploration of Previously Reported Germline Genetic Influences on Invasive vs In situ Melanoma Risk.” ID 52024.

• 2024 May – CIB on NHMRC Partnership grant APP 2030931 “Melanoma Population Screening: Using Genomics to Facilitate Risk Stratification”.

• 2023 December – Lead CI on project RSP-271-2024 ”Combining genetics with behavioural and environmental risks to predict skin cancers” from Tour de Cure.

• 2023, September– Sole CI on a Melanoma research project “Improved genetic risk prediction tools for melanoma” that secured further funding from a donation from The Great Priory of Queensland. Followed by a further matched donation in December, 2023 from Hand Hearts Pockets.

• 2023 – Sole CI on a Melanoma research project funded by a donation from Brian and Merle Dwyer to QIMR Berghofer, “Improved genetic risk prediction tools for melanoma”

• 2020: Co-investigator on an Australian Skin and Skin Cancer Research Centre Early Career Researcher Grant “Translating Polygenic Risk Scores: feasibility, acceptability, and impact of providing melanoma holistic risk information”. ASSC-22020.

• 2020: CIH on NHMRC Clinical Trials and Cohort Studies grant APP1185416 “QSKIN: the burden of skin cancer”.

• 2018: Lead CI on QIMR Berghofer Seed funding grant “Systems Biology of the skin”.

• 2017: CIF on NHMRC project grant APP1129822 “Improving skin cancer prevention: motivating preventive behaviours using knowledge of personalised genomic risk of melanoma”.

• 2017: CIC on NHMRC project grant APP1123248 “Which modifiable risk factors actually cause cancer?”

• 2016: Co-investigator on Worldwide Cancer Research grant WCR16-101 -"Estimating melanoma risk in multiply affected families".

• 2014: Co-investigator on a Rio Tinto Ride To Conquer Cancer grant “Understanding the genetic factors which influence survival in melanoma”.


Publications

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma. Jayasinghe GSMR, Zhu G, Pandeya N, Olsen CM, Martin NG, Lind PA, <not showing 20 authors>, Whiteman DC, Duffy DL, MacGregor S, Law MH. Nat Comm. Accepted 22nd Jan 2026.

Helder M, Pandeya N, Seviiri M, Olsen CM, Whiteman DC, Law MH. No Evidence that Genetically Predicted Circulating Retinol Is Protective for Skin Cancer. J Invest Dermatol. 146(1): 264-267 (2026). PMID: 40581104

https://doi.org/10.1016/j.jid.2025.06.1577

Thakur R, Xu M, Sowards H,<not showing 16 authors, Landi MT, Law MH, Melanoma Meta-Analysis Consortium, Choi J, Brown KM . Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets. AJHG. Jul 3;112(7):1625-1648 (2025). PMID 40409268.


Student Projects


Further Information