QSkin

Cancers of the skin (basal cell carcinoma (BCC), squamous cell carcinoma (SCC), melanoma, keratoacanthoma (KA), and Merkel cell carcinoma (MCC)) are the most common malignancies in humans. In Australia alone, more than 800,000 skin cancers are surgically excised each year at a cost of more than $1 billion – the highest treatment cost of any cancer. More than 2,000 Australians die from melanoma each year, and almost 600 die from cutaneous SCC. Given the burden, and the enormous sums invested in diagnosing and treating skin cancer, surprisingly little is known about the clinical pathways through which patients are managed, nor about how resources are deployed, or patient outcomes. Similarly, while the environmental and phenotypic causes of skin cancers are largely known, much remains to be learned about the genes conferring susceptibility and how such information can be used to improve patient care. In 2010, we established the world’s largest prospective cohort dedicated to the study of skin cancers (The QSkin Study of Sun and Health) to learn new information across the domains of genetics, causation, risk prediction, health services, and health outcomes.

The QSkin Study of Sun and Health is a large prospective cohort study and is one of the largest research studies ever conducted on skin cancer. More than 43,000 Australians answered the baseline risk factor survey in 2010-11 and also gave their consent to be followed through medical records over time. Importantly, the QSkin study will provide long-term information about the burden of skin cancer in Australia. The study continues to provide valuable information on all the different ways in which skin cancers are treated in Australia. By comparing the information from people with and without skin cancer, we are also gaining a better understanding of how skin cancers develop.

While we know many risk factors for basal cell (BCC) and squamous cell (SCC) skin cancers (collectively called keratinocyte skin cancers) and melanoma, it’s not always clear exactly how these factors cause cancer. Knowing about this is important for a better understanding of the biology of how these cancers develop and could lead to new therapies.

To find out more about the genes that cause skin cancer, we collected saliva samples from more than 16,000 QSkin participants between 2014-2016.  We have extracted DNA from those sample, and we have conducted many genome-wide association studies (GWAS) on samples from people who have been diagnosed with keratinocyte skin cancer and people with no history of skin cancer.

Skin cancers place a very large burden on the Australian population. We need to understand who gets skin cancer. An opportunity exists now to discover new knowledge about the genetic causes of skin cancers. These efforts are necessary to understand the biology of these cancers, thereby offering new insights into the best ways to prevent these cancers.

The study is being conducted by doctors and scientists from QIMR Berghofer, led by Professor David Whiteman and Associate Professor Catherine Olsen.

The study is funded by research grants from the National Health and Medical Research Council of Australia (NHMRC).

2008-13 NHMRC Program Grant [552429]

2014-18 NHMRC Project Grant - Genetics [1063061]

2015-19 NHMRC Program Grant [1073898]

2019-23 NHMRC Research Fellowship [1155413]

2020-24 NHMRC CTCS Grant [1185416]

2024-28 NHMRC Investigator Grant [2026567]

Partners

Melanoma Patients Australia

We wish to acknowledge the assistance of Melanoma Patients Australia, their members and families, in overseeing the development of the QSkin study documents.

Skin Cancer College Australasia

We wish to acknowledge the assistance of the Skin Cancer College Australasia for their active involvement with QSkin Genetics.

Infinity Path

We wish to acknowledge the assistance of InfinityPath for their support of the QSkin Study.

QSkin Genetics Lead Investigator Professor David Whiteman explains more about the study and how you can help.

Find out why Adam volunteered for the QSkin Genetics study.

Cathy shares how melanoma has touched her family and why she’s taking part in the QSkin Genetics study.

The QSkin Sun and Health Study involved people answering a series of questions about themselves, their sun protection behaviours and their medical history.

From this information, the researchers were able to conduct in-depth analyses and reported their findings in QSkin newsletters and journal article publications.

View the QSkin Baseline Survey, the QSkin Genetics Survey and the QSkin II Baseline Survey in the Related Materials section below.

In 2021, we recontacted participants in the QSkin Study to capture updated information about their experiences with sun protection and skin cancer.

Researchers at QIMR Berghofer have developed online tests to predict the risk of developing melanoma over the next 3.5 years and keratinocyte cancer (common types of skin cancer such as basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) over a 3 year period.) Click on the links above to use the Risk Predictors.

DISCLAIMER ON USING THE FOLLOWING PREDICTORS

1.   The predictors are not for clinical or diagnostic use;

2.   The predictors provides an indicative risk based on a population study;

3.    If you have any concerns about your skin or any moles, please see your doctor.

Visit our melanoma risk predictor here.

Visit our kerationcyte cancer risk predictor here.